Canonical Allele Identifier: CA1097980594

Gene: PMS2

Linked Data

• dbSNP Id: rs1781447508
• gnomAD v3: 7-5973074-C-T
• gnomAD v4: 7-5973074-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5973074C>T , CM000669.2:g.5973074C>T	GRCh38
NC_000007.13:g.6012705C>T , CM000669.1:g.6012705C>T	GRCh37
NC_000007.12:g.5979231C>T	NCBI36
NG_008466.1:g.41033G>A , LRG_161:g.41033G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699814.2:c.*2310G>A	ENSP00000514615.2:n.*2310G>A
ENST00000699930.2:c.*325G>A	ENSP00000514695.2:n.*325G>A
ENST00000699752.1:c.*325G>A	ENSP00000514561.1:n.*325G>A
ENST00000699753.1:c.*2335G>A	ENSP00000514562.1:n.*2335G>A
ENST00000699754.1:c.*325G>A	ENSP00000514563.1:n.*325G>A
ENST00000699755.1:c.*2313G>A	ENSP00000514564.1:n.*2313G>A
ENST00000699756.1:c.*2501G>A	ENSP00000514565.1:n.*2501G>A
ENST00000699757.1:c.*2171G>A	ENSP00000514566.1:n.*2171G>A
ENST00000699758.1:c.*2171G>A	ENSP00000514567.1:n.*2171G>A
ENST00000699759.1:n.3768G>A
ENST00000699760.1:c.*325G>A	ENSP00000514568.1:n.*325G>A
ENST00000699761.1:c.*325G>A	ENSP00000514569.1:n.*325G>A
ENST00000699762.1:c.*325G>A	ENSP00000514570.1:n.*325G>A
ENST00000699763.1:c.*2004G>A	ENSP00000514571.1:n.*2004G>A
ENST00000699764.1:c.*1232G>A	ENSP00000514572.1:n.*1232G>A
ENST00000699765.1:c.*1909G>A	ENSP00000514573.1:n.*1909G>A
ENST00000699766.1:c.*325G>A	ENSP00000514574.1:n.*325G>A
ENST00000699767.1:c.*555G>A	ENSP00000514575.1:n.*555G>A
ENST00000699768.1:c.*325G>A	ENSP00000514576.1:n.*325G>A
ENST00000699811.1:c.*325G>A	ENSP00000514614.1:n.*325G>A
ENST00000699813.1:n.3027G>A
ENST00000699814.1:c.2537G>A
ENST00000699815.1:c.*2445G>A	ENSP00000514616.1:n.*2445G>A
ENST00000699816.1:c.*1804G>A	ENSP00000514617.1:n.*1804G>A
ENST00000699817.1:c.*2508G>A	ENSP00000514618.1:n.*2508G>A
ENST00000699818.1:c.*325G>A	ENSP00000514619.1:n.*325G>A
ENST00000699819.1:c.*2071G>A	ENSP00000514620.1:n.*2071G>A
ENST00000699820.1:c.*852G>A	ENSP00000514621.1:n.*852G>A
ENST00000699821.1:c.*325G>A	ENSP00000514622.1:n.*325G>A
ENST00000699833.1:n.4686G>A
ENST00000699838.1:c.*2814G>A	ENSP00000514636.1:n.*2814G>A
ENST00000699839.1:c.*325G>A	ENSP00000514637.1:n.*325G>A
ENST00000699916.1:c.*2171G>A	ENSP00000514684.1:n.*2171G>A
ENST00000699917.1:c.*2363G>A	ENSP00000514685.1:n.*2363G>A
ENST00000699918.1:c.*2415G>A	ENSP00000514686.1:n.*2415G>A
ENST00000699919.1:c.*2501G>A	ENSP00000514687.1:n.*2501G>A
ENST00000699920.1:c.*2550G>A	ENSP00000514688.1:n.*2550G>A
ENST00000699928.1:c.*735+117G>A	ENSP00000514693.1:n.*735+117G>A
ENST00000265849.12:c.*325G>A MANE Select	ENSP00000265849.7:n.*325G>A
XM_006715742.2:c.*325G>A	XP_006715805.1:n.*325G>A
XM_006715744.2:c.*325G>A	XP_006715807.1:n.*325G>A
XM_011515427.1:c.*325G>A	XP_011513729.1:n.*325G>A
XM_011515428.1:c.*325G>A	XP_011513730.1:n.*325G>A
XM_011515429.1:c.*325G>A	XP_011513731.1:n.*325G>A
XM_011515430.1:c.*325G>A	XP_011513732.1:n.*325G>A
NM_000535.6:c.*325G>A	NP_000526.2:n.*325G>A
NM_001322003.1:c.*325G>A	NP_001308932.1:n.*325G>A
NM_001322004.1:c.*325G>A	NP_001308933.1:n.*325G>A
NM_001322005.1:c.*325G>A	NP_001308934.1:n.*325G>A
NM_001322006.1:c.*325G>A	NP_001308935.1:n.*325G>A
NM_001322007.1:c.*325G>A	NP_001308936.1:n.*325G>A
NM_001322008.1:c.*325G>A	NP_001308937.1:n.*325G>A
NM_001322009.1:c.*325G>A	NP_001308938.1:n.*325G>A
NM_001322010.1:c.*325G>A	NP_001308939.1:n.*325G>A
NM_001322011.1:c.*325G>A	NP_001308940.1:n.*325G>A
NM_001322012.1:c.*325G>A	NP_001308941.1:n.*325G>A
NM_001322013.1:c.*325G>A	NP_001308942.1:n.*325G>A
NM_001322014.1:c.*325G>A	NP_001308943.1:n.*325G>A
NM_001322015.1:c.*325G>A	NP_001308944.1:n.*325G>A
NR_136154.1:n.2958G>A
XM_006715744.4:c.*325G>A	XP_006715807.1:n.*325G>A
XM_017012342.2:c.*325G>A	XP_016867831.1:n.*325G>A
XM_024446800.1:c.*325G>A	XP_024302568.1:n.*325G>A
NM_000535.7:c.*325G>A MANE Select	NP_000526.2:n.*325G>A
NM_001322003.2:c.*325G>A	NP_001308932.1:n.*325G>A
NM_001322004.2:c.*325G>A	NP_001308933.1:n.*325G>A
NM_001322005.2:c.*325G>A	NP_001308934.1:n.*325G>A
NM_001322006.2:c.*325G>A	NP_001308935.1:n.*325G>A
NM_001322008.2:c.*325G>A	NP_001308937.1:n.*325G>A
NM_001322009.2:c.*325G>A	NP_001308938.1:n.*325G>A
NM_001322010.2:c.*325G>A	NP_001308939.1:n.*325G>A
NM_001322011.2:c.*325G>A	NP_001308940.1:n.*325G>A
NM_001322012.2:c.*325G>A	NP_001308941.1:n.*325G>A
NM_001322013.2:c.*325G>A	NP_001308942.1:n.*325G>A
NM_001322014.2:c.*325G>A	NP_001308943.1:n.*325G>A
NM_001322015.2:c.*325G>A	NP_001308944.1:n.*325G>A
NM_001322007.2:c.*325G>A	NP_001308936.1:n.*325G>A