Canonical Allele Identifier: CA047884

Gene: PMS2

Linked Data

• ClinVar Variation Id: 821158
• ClinVar RCV Id: RCV001015297 ; RCV001362342 ; RCV003461349 ; RCV003479263
• dbSNP Id: rs377259633
• ExAC: 7:6017299 T / A
• gnomAD v2: 7-6017299-T-A
• gnomAD v3: 7-5977668-T-A
• gnomAD v4: 7-5977668-T-A
• MyVariant Identifiers: chr7:g.6017299T>A (hg19) ; chr7:g.5977668T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5977668T>A , CM000669.2:g.5977668T>A	GRCh38
NC_000007.13:g.6017299T>A , CM000669.1:g.6017299T>A	GRCh37
NC_000007.12:g.5983825T>A	NCBI36
NG_008466.1:g.36439A>T , LRG_161:g.36439A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699814.2:c.*1761A>T	ENSP00000514615.2:n.*1761A>T
ENST00000699840.2:c.2362A>T	ENSP00000514638.2:p.Met788Leu
ENST00000699930.2:c.2257A>T	ENSP00000514695.2:p.Met753Leu
ENST00000406569.8:c.1725A>T	ENSP00000514464.1:n.1725A>T
ENST00000644110.2:c.*1959A>T	ENSP00000496392.2:n.*1959A>T
ENST00000699752.1:c.2209A>T	ENSP00000514561.1:p.Met737Leu
ENST00000699753.1:c.*1786A>T	ENSP00000514562.1:n.*1786A>T
ENST00000699754.1:c.2167A>T	ENSP00000514563.1:p.Met723Leu
ENST00000699755.1:c.*1764A>T	ENSP00000514564.1:n.*1764A>T
ENST00000699756.1:c.*1952A>T	ENSP00000514565.1:n.*1952A>T
ENST00000699757.1:c.*1622A>T	ENSP00000514566.1:n.*1622A>T
ENST00000699758.1:c.*1622A>T	ENSP00000514567.1:n.*1622A>T
ENST00000699759.1:n.3219A>T
ENST00000699760.1:c.2047A>T	ENSP00000514568.1:p.Met683Leu
ENST00000699761.1:c.1960A>T	ENSP00000514569.1:p.Met654Leu
ENST00000699762.1:c.1792A>T	ENSP00000514570.1:p.Met598Leu
ENST00000699763.1:c.*1455A>T	ENSP00000514571.1:n.*1455A>T
ENST00000699764.1:c.*683A>T	ENSP00000514572.1:n.*683A>T
ENST00000699765.1:c.*1360A>T	ENSP00000514573.1:n.*1360A>T
ENST00000699766.1:c.2398A>T	ENSP00000514574.1:p.Met800Leu
ENST00000699767.1:c.*6A>T	ENSP00000514575.1:n.*6A>T
ENST00000699768.1:c.2221A>T	ENSP00000514576.1:p.Met741Leu
ENST00000699811.1:c.1960A>T	ENSP00000514614.1:p.Met654Leu
ENST00000699813.1:n.2478A>T
ENST00000699814.1:c.1988A>T
ENST00000699815.1:c.*1896A>T	ENSP00000514616.1:n.*1896A>T
ENST00000699816.1:c.*1255A>T	ENSP00000514617.1:n.*1255A>T
ENST00000699817.1:c.*1959A>T	ENSP00000514618.1:n.*1959A>T
ENST00000699818.1:c.1960A>T	ENSP00000514619.1:p.Met654Leu
ENST00000699819.1:c.*1522A>T	ENSP00000514620.1:n.*1522A>T
ENST00000699820.1:c.*303A>T	ENSP00000514621.1:n.*303A>T
ENST00000699821.1:c.1993A>T	ENSP00000514622.1:p.Met665Leu
ENST00000699822.1:c.*1817A>T	ENSP00000514623.1:n.*1817A>T
ENST00000699823.1:c.1960A>T	ENSP00000514624.1:p.Met654Leu
ENST00000699824.1:c.*1868A>T	ENSP00000514625.1:n.*1868A>T
ENST00000699825.1:c.1804A>T	ENSP00000514626.1:p.Met602Leu
ENST00000699826.1:c.*1764A>T	ENSP00000514627.1:n.*1764A>T
ENST00000699827.1:c.2197A>T	ENSP00000514628.1:p.Met733Leu
ENST00000699828.1:c.*1455A>T	ENSP00000514629.1:n.*1455A>T
ENST00000699833.1:n.4137A>T
ENST00000699837.1:c.1960A>T	ENSP00000514635.1:p.Met654Leu
ENST00000699838.1:c.*2265A>T	ENSP00000514636.1:n.*2265A>T
ENST00000699839.1:c.2551A>T	ENSP00000514637.1:p.Met851Leu
ENST00000699916.1:c.*1622A>T	ENSP00000514684.1:n.*1622A>T
ENST00000699917.1:c.*1814A>T	ENSP00000514685.1:n.*1814A>T
ENST00000699918.1:c.*1866A>T	ENSP00000514686.1:n.*1866A>T
ENST00000699919.1:c.*1952A>T	ENSP00000514687.1:n.*1952A>T
ENST00000699920.1:c.*2001A>T	ENSP00000514688.1:n.*2001A>T
ENST00000699928.1:c.*303A>T	ENSP00000514693.1:n.*303A>T
ENST00000699951.1:c.*1418A>T	ENSP00000514706.1:n.*1418A>T
ENST00000699952.1:c.804-4126A>T	ENSP00000514707.1:n.804-4126A>T
ENST00000265849.12:c.2365A>T MANE Select	ENSP00000265849.7:p.Met789Leu
ENST00000642292.1:c.1960A>T	ENSP00000495524.1:p.Met654Leu
ENST00000642456.1:c.1960A>T	ENSP00000493814.1:p.Met654Leu
ENST00000643595.1:c.*1764A>T	ENSP00000494497.1:n.*1764A>T
ENST00000644110.1:c.2047A>T	ENSP00000496392.1:p.Met683Leu
ENST00000265849.11:c.2365A>T	ENSP00000265849.7:p.Met789Leu
ENST00000382321.5:c.1162A>T	ENSP00000371758.4:p.Met388Leu
ENST00000441476.6:c.2047A>T	ENSP00000392843.2:p.Met683Leu
NM_000535.5:c.2365A>T , LRG_161t1:c.2365A>T	NP_000526.1:p.Met789Leu
NR_003085.2:n.2447A>T
XM_006715742.2:c.2359A>T	XP_006715805.1:p.Met787Leu
XM_006715744.2:c.1432A>T	XP_006715807.1:p.Met478Leu
XM_011515427.1:c.2410A>T	XP_011513729.1:p.Met804Leu
XM_011515428.1:c.2254A>T	XP_011513730.1:p.Met752Leu
XM_011515429.1:c.2047A>T	XP_011513731.1:p.Met683Leu
XM_011515430.1:c.2047A>T	XP_011513732.1:p.Met683Leu
NM_000535.6:c.2365A>T	NP_000526.2:p.Met789Leu
NM_001322003.1:c.1960A>T	NP_001308932.1:p.Met654Leu
NM_001322004.1:c.1960A>T	NP_001308933.1:p.Met654Leu
NM_001322005.1:c.1960A>T	NP_001308934.1:p.Met654Leu
NM_001322006.1:c.2209A>T	NP_001308935.1:p.Met737Leu
NM_001322007.1:c.2047A>T	NP_001308936.1:p.Met683Leu
NM_001322008.1:c.2047A>T	NP_001308937.1:p.Met683Leu
NM_001322009.1:c.1993A>T	NP_001308938.1:p.Met665Leu
NM_001322010.1:c.1804A>T	NP_001308939.1:p.Met602Leu
NM_001322011.1:c.1432A>T	NP_001308940.1:p.Met478Leu
NM_001322012.1:c.1432A>T	NP_001308941.1:p.Met478Leu
NM_001322013.1:c.1792A>T	NP_001308942.1:p.Met598Leu
NM_001322014.1:c.2398A>T	NP_001308943.1:p.Met800Leu
NM_001322015.1:c.2056A>T	NP_001308944.1:p.Met686Leu
NR_136154.1:n.2409A>T
XM_006715744.4:c.1432A>T	XP_006715807.1:p.Met478Leu
XM_017012342.2:c.1432A>T	XP_016867831.1:p.Met478Leu
XM_024446800.1:c.1804A>T	XP_024302568.1:p.Met602Leu
NM_000535.7:c.2365A>T MANE Select	NP_000526.2:p.Met789Leu
NM_001322003.2:c.1960A>T	NP_001308932.1:p.Met654Leu
NM_001322004.2:c.1960A>T	NP_001308933.1:p.Met654Leu
NM_001322005.2:c.1960A>T	NP_001308934.1:p.Met654Leu
NM_001322006.2:c.2209A>T	NP_001308935.1:p.Met737Leu
NM_001322008.2:c.2047A>T	NP_001308937.1:p.Met683Leu
NM_001322009.2:c.1993A>T	NP_001308938.1:p.Met665Leu
NM_001322010.2:c.1804A>T	NP_001308939.1:p.Met602Leu
NM_001322011.2:c.1432A>T	NP_001308940.1:p.Met478Leu
NM_001322012.2:c.1432A>T	NP_001308941.1:p.Met478Leu
NM_001322013.2:c.1792A>T	NP_001308942.1:p.Met598Leu
NM_001322014.2:c.2398A>T	NP_001308943.1:p.Met800Leu
NM_001322015.2:c.2056A>T	NP_001308944.1:p.Met686Leu
NM_001322007.2:c.2047A>T	NP_001308936.1:p.Met683Leu