Canonical Allele Identifier: CA366735663

Gene: PMS2

Linked Data

• dbSNP Id: rs2128672317
• MyVariant Identifiers: chr7:g.6017256A>T (hg19) ; chr7:g.5977625A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5977625A>T , CM000669.2:g.5977625A>T	GRCh38
NC_000007.13:g.6017256A>T , CM000669.1:g.6017256A>T	GRCh37
NC_000007.12:g.5983782A>T	NCBI36
NG_008466.1:g.36482T>A , LRG_161:g.36482T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699814.2:c.*1804T>A	ENSP00000514615.2:n.*1804T>A
ENST00000699840.2:c.2405T>A	ENSP00000514638.2:p.Val802Asp
ENST00000699930.2:c.2300T>A	ENSP00000514695.2:p.Val767Asp
ENST00000406569.8:c.1768T>A	ENSP00000514464.1:n.1768T>A
ENST00000644110.2:c.*2002T>A	ENSP00000496392.2:n.*2002T>A
ENST00000699752.1:c.2252T>A	ENSP00000514561.1:p.Val751Asp
ENST00000699753.1:c.*1829T>A	ENSP00000514562.1:n.*1829T>A
ENST00000699754.1:c.2210T>A	ENSP00000514563.1:p.Val737Asp
ENST00000699755.1:c.*1807T>A	ENSP00000514564.1:n.*1807T>A
ENST00000699756.1:c.*1995T>A	ENSP00000514565.1:n.*1995T>A
ENST00000699757.1:c.*1665T>A	ENSP00000514566.1:n.*1665T>A
ENST00000699758.1:c.*1665T>A	ENSP00000514567.1:n.*1665T>A
ENST00000699759.1:n.3262T>A
ENST00000699760.1:c.2090T>A	ENSP00000514568.1:p.Val697Asp
ENST00000699761.1:c.2003T>A	ENSP00000514569.1:p.Val668Asp
ENST00000699762.1:c.1835T>A	ENSP00000514570.1:p.Val612Asp
ENST00000699763.1:c.*1498T>A	ENSP00000514571.1:n.*1498T>A
ENST00000699764.1:c.*726T>A	ENSP00000514572.1:n.*726T>A
ENST00000699765.1:c.*1403T>A	ENSP00000514573.1:n.*1403T>A
ENST00000699766.1:c.2441T>A	ENSP00000514574.1:p.Val814Asp
ENST00000699767.1:c.*49T>A	ENSP00000514575.1:n.*49T>A
ENST00000699768.1:c.2264T>A	ENSP00000514576.1:p.Val755Asp
ENST00000699811.1:c.2003T>A	ENSP00000514614.1:p.Val668Asp
ENST00000699813.1:n.2521T>A
ENST00000699814.1:c.2031T>A
ENST00000699815.1:c.*1939T>A	ENSP00000514616.1:n.*1939T>A
ENST00000699816.1:c.*1298T>A	ENSP00000514617.1:n.*1298T>A
ENST00000699817.1:c.*2002T>A	ENSP00000514618.1:n.*2002T>A
ENST00000699818.1:c.2003T>A	ENSP00000514619.1:p.Val668Asp
ENST00000699819.1:c.*1565T>A	ENSP00000514620.1:n.*1565T>A
ENST00000699820.1:c.*346T>A	ENSP00000514621.1:n.*346T>A
ENST00000699821.1:c.2036T>A	ENSP00000514622.1:p.Val679Asp
ENST00000699822.1:c.*1860T>A	ENSP00000514623.1:n.*1860T>A
ENST00000699823.1:c.2003T>A	ENSP00000514624.1:p.Val668Asp
ENST00000699824.1:c.*1911T>A	ENSP00000514625.1:n.*1911T>A
ENST00000699825.1:c.1847T>A	ENSP00000514626.1:p.Val616Asp
ENST00000699826.1:c.*1807T>A	ENSP00000514627.1:n.*1807T>A
ENST00000699827.1:c.2240T>A	ENSP00000514628.1:p.Val747Asp
ENST00000699828.1:c.*1498T>A	ENSP00000514629.1:n.*1498T>A
ENST00000699833.1:n.4180T>A
ENST00000699837.1:c.2003T>A	ENSP00000514635.1:p.Val668Asp
ENST00000699838.1:c.*2308T>A	ENSP00000514636.1:n.*2308T>A
ENST00000699839.1:c.2594T>A	ENSP00000514637.1:p.Val865Asp
ENST00000699916.1:c.*1665T>A	ENSP00000514684.1:n.*1665T>A
ENST00000699917.1:c.*1857T>A	ENSP00000514685.1:n.*1857T>A
ENST00000699918.1:c.*1909T>A	ENSP00000514686.1:n.*1909T>A
ENST00000699919.1:c.*1995T>A	ENSP00000514687.1:n.*1995T>A
ENST00000699920.1:c.*2044T>A	ENSP00000514688.1:n.*2044T>A
ENST00000699928.1:c.*346T>A	ENSP00000514693.1:n.*346T>A
ENST00000699951.1:c.*1461T>A	ENSP00000514706.1:n.*1461T>A
ENST00000699952.1:c.804-4083T>A	ENSP00000514707.1:n.804-4083T>A
ENST00000265849.12:c.2408T>A MANE Select	ENSP00000265849.7:p.Val803Asp
ENST00000642292.1:c.2003T>A	ENSP00000495524.1:p.Val668Asp
ENST00000642456.1:c.2003T>A	ENSP00000493814.1:p.Val668Asp
ENST00000643595.1:c.*1807T>A	ENSP00000494497.1:n.*1807T>A
ENST00000644110.1:c.2090T>A	ENSP00000496392.1:p.Val697Asp
ENST00000265849.11:c.2408T>A	ENSP00000265849.7:p.Val803Asp
ENST00000382321.5:c.1205T>A	ENSP00000371758.4:p.Val402Asp
ENST00000441476.6:c.2090T>A	ENSP00000392843.2:p.Val697Asp
NM_000535.5:c.2408T>A , LRG_161t1:c.2408T>A	NP_000526.1:p.Val803Asp
NR_003085.2:n.2490T>A
XM_006715742.2:c.2402T>A	XP_006715805.1:p.Val801Asp
XM_006715744.2:c.1475T>A	XP_006715807.1:p.Val492Asp
XM_011515427.1:c.2453T>A	XP_011513729.1:p.Val818Asp
XM_011515428.1:c.2297T>A	XP_011513730.1:p.Val766Asp
XM_011515429.1:c.2090T>A	XP_011513731.1:p.Val697Asp
XM_011515430.1:c.2090T>A	XP_011513732.1:p.Val697Asp
NM_000535.6:c.2408T>A	NP_000526.2:p.Val803Asp
NM_001322003.1:c.2003T>A	NP_001308932.1:p.Val668Asp
NM_001322004.1:c.2003T>A	NP_001308933.1:p.Val668Asp
NM_001322005.1:c.2003T>A	NP_001308934.1:p.Val668Asp
NM_001322006.1:c.2252T>A	NP_001308935.1:p.Val751Asp
NM_001322007.1:c.2090T>A	NP_001308936.1:p.Val697Asp
NM_001322008.1:c.2090T>A	NP_001308937.1:p.Val697Asp
NM_001322009.1:c.2036T>A	NP_001308938.1:p.Val679Asp
NM_001322010.1:c.1847T>A	NP_001308939.1:p.Val616Asp
NM_001322011.1:c.1475T>A	NP_001308940.1:p.Val492Asp
NM_001322012.1:c.1475T>A	NP_001308941.1:p.Val492Asp
NM_001322013.1:c.1835T>A	NP_001308942.1:p.Val612Asp
NM_001322014.1:c.2441T>A	NP_001308943.1:p.Val814Asp
NM_001322015.1:c.2099T>A	NP_001308944.1:p.Val700Asp
NR_136154.1:n.2452T>A
XM_006715744.4:c.1475T>A	XP_006715807.1:p.Val492Asp
XM_017012342.2:c.1475T>A	XP_016867831.1:p.Val492Asp
XM_024446800.1:c.1847T>A	XP_024302568.1:p.Val616Asp
NM_000535.7:c.2408T>A MANE Select	NP_000526.2:p.Val803Asp
NM_001322003.2:c.2003T>A	NP_001308932.1:p.Val668Asp
NM_001322004.2:c.2003T>A	NP_001308933.1:p.Val668Asp
NM_001322005.2:c.2003T>A	NP_001308934.1:p.Val668Asp
NM_001322006.2:c.2252T>A	NP_001308935.1:p.Val751Asp
NM_001322008.2:c.2090T>A	NP_001308937.1:p.Val697Asp
NM_001322009.2:c.2036T>A	NP_001308938.1:p.Val679Asp
NM_001322010.2:c.1847T>A	NP_001308939.1:p.Val616Asp
NM_001322011.2:c.1475T>A	NP_001308940.1:p.Val492Asp
NM_001322012.2:c.1475T>A	NP_001308941.1:p.Val492Asp
NM_001322013.2:c.1835T>A	NP_001308942.1:p.Val612Asp
NM_001322014.2:c.2441T>A	NP_001308943.1:p.Val814Asp
NM_001322015.2:c.2099T>A	NP_001308944.1:p.Val700Asp
NM_001322007.2:c.2090T>A	NP_001308936.1:p.Val697Asp