Canonical Allele Identifier: CA366741948

Gene: PMS2

Linked Data

• dbSNP Id: rs2128730424
• MyVariant Identifiers: chr7:g.6026948T>G (hg19) ; chr7:g.5987317T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5987317T>G , CM000669.2:g.5987317T>G	GRCh38
NC_000007.13:g.6026948T>G , CM000669.1:g.6026948T>G	GRCh37
NC_000007.12:g.5993474T>G	NCBI36
NG_008466.1:g.26790A>C , LRG_161:g.26790A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000699814.2:c.*844A>C	ENSP00000514615.2:n.*844A>C
ENST00000699840.2:c.1445A>C	ENSP00000514638.2:p.Asp482Ala
ENST00000699930.2:c.1340A>C	ENSP00000514695.2:p.Asp447Ala
ENST00000406569.8:c.1448A>C	ENSP00000514464.1:p.Asp483Ala
ENST00000644110.2:c.*1042A>C	ENSP00000496392.2:n.*1042A>C
ENST00000699752.1:c.1292A>C	ENSP00000514561.1:p.Asp431Ala
ENST00000699753.1:c.*869A>C	ENSP00000514562.1:n.*869A>C
ENST00000699754.1:c.1250A>C	ENSP00000514563.1:p.Asp417Ala
ENST00000699755.1:c.*847A>C	ENSP00000514564.1:n.*847A>C
ENST00000699756.1:c.*1035A>C	ENSP00000514565.1:n.*1035A>C
ENST00000699757.1:c.*705A>C	ENSP00000514566.1:n.*705A>C
ENST00000699758.1:c.*705A>C	ENSP00000514567.1:n.*705A>C
ENST00000699759.1:n.2302A>C
ENST00000699760.1:c.1130A>C	ENSP00000514568.1:p.Asp377Ala
ENST00000699761.1:c.1043A>C	ENSP00000514569.1:p.Asp348Ala
ENST00000699762.1:c.875A>C	ENSP00000514570.1:p.Asp292Ala
ENST00000699763.1:c.*538A>C	ENSP00000514571.1:n.*538A>C
ENST00000699764.1:c.1448A>C	ENSP00000514572.1:p.Asp483Ala
ENST00000699765.1:c.*544A>C	ENSP00000514573.1:n.*544A>C
ENST00000699766.1:c.1448A>C	ENSP00000514574.1:p.Asp483Ala
ENST00000699767.1:c.1448A>C	ENSP00000514575.1:p.Asp483Ala
ENST00000699768.1:c.1448A>C	ENSP00000514576.1:p.Asp483Ala
ENST00000699811.1:c.1043A>C	ENSP00000514614.1:p.Asp348Ala
ENST00000699813.1:n.1561A>C
ENST00000699814.1:c.1071A>C
ENST00000699815.1:c.*979A>C	ENSP00000514616.1:n.*979A>C
ENST00000699816.1:c.*338A>C	ENSP00000514617.1:n.*338A>C
ENST00000699817.1:c.*1042A>C	ENSP00000514618.1:n.*1042A>C
ENST00000699818.1:c.1043A>C	ENSP00000514619.1:p.Asp348Ala
ENST00000699819.1:c.*605A>C	ENSP00000514620.1:n.*605A>C
ENST00000699820.1:c.1144+2483A>C	ENSP00000514621.1:n.1144+2483A>C
ENST00000699821.1:c.1043A>C	ENSP00000514622.1:p.Asp348Ala
ENST00000699822.1:c.*900A>C	ENSP00000514623.1:n.*900A>C
ENST00000699823.1:c.1043A>C	ENSP00000514624.1:p.Asp348Ala
ENST00000699824.1:c.*951A>C	ENSP00000514625.1:n.*951A>C
ENST00000699825.1:c.887A>C	ENSP00000514626.1:p.Asp296Ala
ENST00000699826.1:c.*847A>C	ENSP00000514627.1:n.*847A>C
ENST00000699827.1:c.1280A>C	ENSP00000514628.1:p.Asp427Ala
ENST00000699828.1:c.*538A>C	ENSP00000514629.1:n.*538A>C
ENST00000699833.1:n.3220A>C
ENST00000699837.1:c.1043A>C	ENSP00000514635.1:p.Asp348Ala
ENST00000699838.1:c.*1348A>C	ENSP00000514636.1:n.*1348A>C
ENST00000699839.1:c.1634A>C	ENSP00000514637.1:p.Asp545Ala
ENST00000699916.1:c.*705A>C	ENSP00000514684.1:n.*705A>C
ENST00000699917.1:c.*897A>C	ENSP00000514685.1:n.*897A>C
ENST00000699918.1:c.*949A>C	ENSP00000514686.1:n.*949A>C
ENST00000699919.1:c.*1035A>C	ENSP00000514687.1:n.*1035A>C
ENST00000699920.1:c.*1084A>C	ENSP00000514688.1:n.*1084A>C
ENST00000699928.1:c.989-4326A>C	ENSP00000514693.1:n.989-4326A>C
ENST00000699929.1:c.*749A>C	ENSP00000514694.1:n.*749A>C
ENST00000699930.1:c.1340A>C	ENSP00000514695.1:p.Asp447Ala
ENST00000699931.1:n.2876A>C
ENST00000699951.1:c.*544A>C	ENSP00000514706.1:n.*544A>C
ENST00000699952.1:c.803+10009A>C	ENSP00000514707.1:n.803+10009A>C
ENST00000699953.1:c.*555A>C	ENSP00000514708.1:n.*555A>C
ENST00000699954.1:c.*749A>C	ENSP00000514709.1:n.*749A>C
ENST00000265849.12:c.1448A>C MANE Select	ENSP00000265849.7:p.Asp483Ala
ENST00000642292.1:c.1043A>C	ENSP00000495524.1:p.Asp348Ala
ENST00000642456.1:c.1043A>C	ENSP00000493814.1:p.Asp348Ala
ENST00000643595.1:c.*847A>C	ENSP00000494497.1:n.*847A>C
ENST00000644110.1:c.1130A>C	ENSP00000496392.1:p.Asp377Ala
ENST00000265849.11:c.1448A>C	ENSP00000265849.7:p.Asp483Ala
ENST00000382321.5:c.804-4326A>C	ENSP00000371758.4:n.804-4326A>C
ENST00000406569.7:n.1448A>C
ENST00000441476.6:c.1130A>C	ENSP00000392843.2:p.Asp377Ala
ENST00000469652.1:n.63-4412A>C
NM_000535.5:c.1448A>C , LRG_161t1:c.1448A>C	NP_000526.1:p.Asp483Ala
NR_003085.2:n.1530A>C
XM_006715742.2:c.1442A>C	XP_006715805.1:p.Asp481Ala
XM_006715744.2:c.515A>C	XP_006715807.1:p.Asp172Ala
XM_011515427.1:c.1493A>C	XP_011513729.1:p.Asp498Ala
XM_011515428.1:c.1337A>C	XP_011513730.1:p.Asp446Ala
XM_011515429.1:c.1130A>C	XP_011513731.1:p.Asp377Ala
XM_011515430.1:c.1130A>C	XP_011513732.1:p.Asp377Ala
NM_000535.6:c.1448A>C	NP_000526.2:p.Asp483Ala
NM_001322003.1:c.1043A>C	NP_001308932.1:p.Asp348Ala
NM_001322004.1:c.1043A>C	NP_001308933.1:p.Asp348Ala
NM_001322005.1:c.1043A>C	NP_001308934.1:p.Asp348Ala
NM_001322006.1:c.1292A>C	NP_001308935.1:p.Asp431Ala
NM_001322007.1:c.1130A>C	NP_001308936.1:p.Asp377Ala
NM_001322008.1:c.1130A>C	NP_001308937.1:p.Asp377Ala
NM_001322009.1:c.1043A>C	NP_001308938.1:p.Asp348Ala
NM_001322010.1:c.887A>C	NP_001308939.1:p.Asp296Ala
NM_001322011.1:c.515A>C	NP_001308940.1:p.Asp172Ala
NM_001322012.1:c.515A>C	NP_001308941.1:p.Asp172Ala
NM_001322013.1:c.875A>C	NP_001308942.1:p.Asp292Ala
NM_001322014.1:c.1448A>C	NP_001308943.1:p.Asp483Ala
NM_001322015.1:c.1139A>C	NP_001308944.1:p.Asp380Ala
NR_136154.1:n.1535A>C
XM_006715744.4:c.515A>C	XP_006715807.1:p.Asp172Ala
XM_017012342.2:c.515A>C	XP_016867831.1:p.Asp172Ala
XM_024446800.1:c.887A>C	XP_024302568.1:p.Asp296Ala
NM_000535.7:c.1448A>C MANE Select	NP_000526.2:p.Asp483Ala
NM_001322003.2:c.1043A>C	NP_001308932.1:p.Asp348Ala
NM_001322004.2:c.1043A>C	NP_001308933.1:p.Asp348Ala
NM_001322005.2:c.1043A>C	NP_001308934.1:p.Asp348Ala
NM_001322006.2:c.1292A>C	NP_001308935.1:p.Asp431Ala
NM_001322008.2:c.1130A>C	NP_001308937.1:p.Asp377Ala
NM_001322009.2:c.1043A>C	NP_001308938.1:p.Asp348Ala
NM_001322010.2:c.887A>C	NP_001308939.1:p.Asp296Ala
NM_001322011.2:c.515A>C	NP_001308940.1:p.Asp172Ala
NM_001322012.2:c.515A>C	NP_001308941.1:p.Asp172Ala
NM_001322013.2:c.875A>C	NP_001308942.1:p.Asp292Ala
NM_001322014.2:c.1448A>C	NP_001308943.1:p.Asp483Ala
NM_001322015.2:c.1139A>C	NP_001308944.1:p.Asp380Ala
NM_001322007.2:c.1130A>C	NP_001308936.1:p.Asp377Ala