Canonical Allele Identifier: CA011451

Gene: PMS2

Linked Data

• ClinVar Variation Id: 138705
• ClinVar RCV Id: RCV000127470 ; RCV000199528 ; RCV000212837 ; RCV001725992 ; RCV003149867 ; RCV003952668
• dbSNP Id: rs143162541
• ExAC: 7:6043613 G / A
• gnomAD v2: 7-6043613-G-A
• gnomAD v3: 7-6003982-G-A
• gnomAD v4: 7-6003982-G-A
• MyVariant Identifiers: chr7:g.6043613G>A (hg19) ; chr7:g.6003982G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.6003982G>A , CM000669.2:g.6003982G>A	GRCh38
NC_000007.13:g.6043613G>A , CM000669.1:g.6043613G>A	GRCh37
NC_000007.12:g.6010139G>A	NCBI36
NG_008466.1:g.10125C>T , LRG_161:g.10125C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000699814.2:c.240C>T	ENSP00000514615.2:p.Phe80=
ENST00000699840.2:c.240C>T	ENSP00000514638.2:p.Phe80=
ENST00000699930.2:c.240C>T	ENSP00000514695.2:p.Phe80=
ENST00000406569.8:c.240C>T	ENSP00000514464.1:p.Phe80=
ENST00000415839.3:n.305C>T
ENST00000644110.2:c.240C>T	ENSP00000496392.2:p.Phe80=
ENST00000699752.1:c.240C>T	ENSP00000514561.1:p.Phe80=
ENST00000699753.1:c.-166C>T	ENSP00000514562.1:n.-166C>T
ENST00000699754.1:c.240C>T	ENSP00000514563.1:p.Phe80=
ENST00000699755.1:c.-166C>T	ENSP00000514564.1:n.-166C>T
ENST00000699756.1:c.240C>T	ENSP00000514565.1:p.Phe80=
ENST00000699757.1:c.25C>T	ENSP00000514566.1:p.Arg9Ter
ENST00000699758.1:c.240C>T	ENSP00000514567.1:p.Phe80=
ENST00000699759.1:n.312C>T
ENST00000699760.1:c.25C>T	ENSP00000514568.1:p.Arg9Ter
ENST00000699761.1:c.-113C>T	ENSP00000514569.1:n.-113C>T
ENST00000699762.1:c.-166C>T	ENSP00000514570.1:n.-166C>T
ENST00000699763.1:c.-166C>T	ENSP00000514571.1:n.-166C>T
ENST00000699764.1:c.240C>T	ENSP00000514572.1:p.Phe80=
ENST00000699765.1:c.25C>T	ENSP00000514573.1:p.Arg9Ter
ENST00000699766.1:c.240C>T	ENSP00000514574.1:p.Phe80=
ENST00000699767.1:c.240C>T	ENSP00000514575.1:p.Phe80=
ENST00000699768.1:c.240C>T	ENSP00000514576.1:p.Phe80=
ENST00000699769.1:n.320C>T
ENST00000699770.1:n.296C>T
ENST00000699811.1:c.-341C>T	ENSP00000514614.1:n.-341C>T
ENST00000699814.1:c.164C>T
ENST00000699815.1:c.-166C>T	ENSP00000514616.1:n.-166C>T
ENST00000699816.1:c.-166C>T	ENSP00000514617.1:n.-166C>T
ENST00000699817.1:c.164-1346C>T	ENSP00000514618.1:n.164-1346C>T
ENST00000699818.1:c.-166C>T	ENSP00000514619.1:n.-166C>T
ENST00000699819.1:c.-179C>T	ENSP00000514620.1:n.-179C>T
ENST00000699820.1:c.240C>T	ENSP00000514621.1:p.Phe80=
ENST00000699821.1:c.-166C>T	ENSP00000514622.1:n.-166C>T
ENST00000699822.1:c.-166C>T	ENSP00000514623.1:n.-166C>T
ENST00000699823.1:c.-113C>T	ENSP00000514624.1:n.-113C>T
ENST00000699824.1:c.240C>T	ENSP00000514625.1:p.Phe80=
ENST00000699825.1:c.-166C>T	ENSP00000514626.1:n.-166C>T
ENST00000699826.1:c.-166C>T	ENSP00000514627.1:n.-166C>T
ENST00000699827.1:c.240C>T	ENSP00000514628.1:p.Phe80=
ENST00000699828.1:c.240C>T	ENSP00000514629.1:p.Phe80=
ENST00000699829.1:c.-113C>T	ENSP00000514630.1:n.-113C>T
ENST00000699830.1:c.240C>T	ENSP00000514631.1:p.Phe80=
ENST00000699831.1:n.201C>T
ENST00000699833.1:n.320C>T
ENST00000699834.1:n.446C>T
ENST00000699837.1:c.-63C>T	ENSP00000514635.1:n.-63C>T
ENST00000699838.1:c.*140C>T	ENSP00000514636.1:n.*140C>T
ENST00000699839.1:c.426C>T	ENSP00000514637.1:p.Phe142=
ENST00000699840.1:c.240C>T	ENSP00000514638.1:p.Phe80=
ENST00000699916.1:c.-166C>T	ENSP00000514684.1:n.-166C>T
ENST00000699917.1:c.240C>T	ENSP00000514685.1:p.Phe80=
ENST00000699918.1:c.240C>T	ENSP00000514686.1:p.Phe80=
ENST00000699919.1:c.240C>T	ENSP00000514687.1:p.Phe80=
ENST00000699920.1:c.240C>T	ENSP00000514688.1:p.Phe80=
ENST00000699928.1:c.240C>T	ENSP00000514693.1:p.Phe80=
ENST00000699929.1:c.240C>T	ENSP00000514694.1:p.Phe80=
ENST00000699930.1:c.240C>T	ENSP00000514695.1:p.Phe80=
ENST00000699931.1:n.351C>T
ENST00000699932.1:c.240C>T	ENSP00000514696.1:p.Phe80=
ENST00000699933.1:n.320C>T
ENST00000699951.1:c.240C>T	ENSP00000514706.1:p.Phe80=
ENST00000699952.1:c.240C>T	ENSP00000514707.1:p.Phe80=
ENST00000699953.1:c.240C>T	ENSP00000514708.1:p.Phe80=
ENST00000699954.1:c.240C>T	ENSP00000514709.1:p.Phe80=
ENST00000703409.1:n.439C>T
ENST00000265849.12:c.240C>T MANE Select	ENSP00000265849.7:p.Phe80=
ENST00000642292.1:c.-166C>T	ENSP00000495524.1:n.-166C>T
ENST00000642456.1:c.-166C>T	ENSP00000493814.1:n.-166C>T
ENST00000643595.1:c.240C>T	ENSP00000494497.1:p.Phe80=
ENST00000644110.1:c.25C>T	ENSP00000496392.1:p.Arg9Ter
ENST00000265849.11:c.240C>T	ENSP00000265849.7:p.Phe80=
ENST00000380416.5:n.319C>T
ENST00000382321.5:c.240C>T	ENSP00000371758.4:p.Phe80=
ENST00000406569.7:n.240C>T
ENST00000415839.2:n.252C>T
ENST00000441476.6:c.25C>T	ENSP00000392843.2:p.Arg9Ter
ENST00000469652.1:n.62+2011C>T
NM_000535.5:c.240C>T , LRG_161t1:c.240C>T	NP_000526.1:p.Phe80=
NR_003085.2:n.322C>T
XM_006715742.2:c.234C>T	XP_006715805.1:p.Phe78=
XM_011515427.1:c.285C>T	XP_011513729.1:p.Phe95=
XM_011515428.1:c.285C>T	XP_011513730.1:p.Phe95=
XM_011515429.1:c.25C>T	XP_011513731.1:p.Arg9Ter
XM_011515430.1:c.25C>T	XP_011513732.1:p.Arg9Ter
NM_000535.6:c.240C>T	NP_000526.2:p.Phe80=
NM_001322003.1:c.-166C>T	NP_001308932.1:n.-166C>T
NM_001322004.1:c.-166C>T	NP_001308933.1:n.-166C>T
NM_001322005.1:c.-166C>T	NP_001308934.1:n.-166C>T
NM_001322006.1:c.240C>T	NP_001308935.1:p.Phe80=
NM_001322007.1:c.25C>T	NP_001308936.1:p.Arg9Ter
NM_001322008.1:c.25C>T	NP_001308937.1:p.Arg9Ter
NM_001322009.1:c.-166C>T	NP_001308938.1:n.-166C>T
NM_001322010.1:c.-166C>T	NP_001308939.1:n.-166C>T
NM_001322011.1:c.-645C>T	NP_001308940.1:n.-645C>T
NM_001322012.1:c.-645C>T	NP_001308941.1:n.-645C>T
NM_001322013.1:c.-166C>T	NP_001308942.1:n.-166C>T
NM_001322014.1:c.240C>T	NP_001308943.1:p.Phe80=
NM_001322015.1:c.-245C>T	NP_001308944.1:n.-245C>T
NR_136154.1:n.327C>T
XM_017012342.2:c.-545C>T	XP_016867831.1:n.-545C>T
XM_024446800.1:c.-166C>T	XP_024302568.1:n.-166C>T
NM_000535.7:c.240C>T MANE Select	NP_000526.2:p.Phe80=
NM_001322003.2:c.-166C>T	NP_001308932.1:n.-166C>T
NM_001322004.2:c.-166C>T	NP_001308933.1:n.-166C>T
NM_001322005.2:c.-166C>T	NP_001308934.1:n.-166C>T
NM_001322006.2:c.240C>T	NP_001308935.1:p.Phe80=
NM_001322008.2:c.25C>T	NP_001308937.1:p.Arg9Ter
NM_001322009.2:c.-166C>T	NP_001308938.1:n.-166C>T
NM_001322010.2:c.-166C>T	NP_001308939.1:n.-166C>T
NM_001322011.2:c.-645C>T	NP_001308940.1:n.-645C>T
NM_001322012.2:c.-645C>T	NP_001308941.1:n.-645C>T
NM_001322013.2:c.-166C>T	NP_001308942.1:n.-166C>T
NM_001322014.2:c.240C>T	NP_001308943.1:p.Phe80=
NM_001322015.2:c.-245C>T	NP_001308944.1:n.-245C>T
NM_001322007.2:c.25C>T	NP_001308936.1:p.Arg9Ter