Canonical Allele Identifier: CA366739336

Gene: PMS2

Linked Data

• ClinVar Variation Id: 2573186
• ClinVar RCV Id: RCV003315491
• dbSNP Id: rs878854040
• MyVariant Identifiers: chr7:g.6026493C>A (hg19) ; chr7:g.5986862C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5986862C>A , CM000669.2:g.5986862C>A	GRCh38
NC_000007.13:g.6026493C>A , CM000669.1:g.6026493C>A	GRCh37
NC_000007.12:g.5993019C>A	NCBI36
NG_008466.1:g.27245G>T , LRG_161:g.27245G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699814.2:c.*1299G>T	ENSP00000514615.2:n.*1299G>T
ENST00000699840.2:c.1900G>T	ENSP00000514638.2:p.Glu634Ter
ENST00000699930.2:c.1795G>T	ENSP00000514695.2:p.Glu599Ter
ENST00000406569.8:c.1678+225G>T	ENSP00000514464.1:n.1678+225G>T
ENST00000644110.2:c.*1497G>T	ENSP00000496392.2:n.*1497G>T
ENST00000699752.1:c.1747G>T	ENSP00000514561.1:p.Glu583Ter
ENST00000699753.1:c.*1324G>T	ENSP00000514562.1:n.*1324G>T
ENST00000699754.1:c.1705G>T	ENSP00000514563.1:p.Glu569Ter
ENST00000699755.1:c.*1302G>T	ENSP00000514564.1:n.*1302G>T
ENST00000699756.1:c.*1490G>T	ENSP00000514565.1:n.*1490G>T
ENST00000699757.1:c.*1160G>T	ENSP00000514566.1:n.*1160G>T
ENST00000699758.1:c.*1160G>T	ENSP00000514567.1:n.*1160G>T
ENST00000699759.1:n.2757G>T
ENST00000699760.1:c.1585G>T	ENSP00000514568.1:p.Glu529Ter
ENST00000699761.1:c.1498G>T	ENSP00000514569.1:p.Glu500Ter
ENST00000699762.1:c.1330G>T	ENSP00000514570.1:p.Glu444Ter
ENST00000699763.1:c.*993G>T	ENSP00000514571.1:n.*993G>T
ENST00000699764.1:c.*221G>T	ENSP00000514572.1:n.*221G>T
ENST00000699765.1:c.*999G>T	ENSP00000514573.1:n.*999G>T
ENST00000699766.1:c.1903G>T	ENSP00000514574.1:p.Glu635Ter
ENST00000699767.1:c.1903G>T	ENSP00000514575.1:p.Glu635Ter
ENST00000699768.1:c.1903G>T	ENSP00000514576.1:p.Glu635Ter
ENST00000699811.1:c.1498G>T	ENSP00000514614.1:p.Glu500Ter
ENST00000699813.1:n.2016G>T
ENST00000699814.1:c.1526G>T
ENST00000699815.1:c.*1434G>T	ENSP00000514616.1:n.*1434G>T
ENST00000699816.1:c.*793G>T	ENSP00000514617.1:n.*793G>T
ENST00000699817.1:c.*1497G>T	ENSP00000514618.1:n.*1497G>T
ENST00000699818.1:c.1498G>T	ENSP00000514619.1:p.Glu500Ter
ENST00000699819.1:c.*1060G>T	ENSP00000514620.1:n.*1060G>T
ENST00000699820.1:c.1144+2938G>T	ENSP00000514621.1:n.1144+2938G>T
ENST00000699821.1:c.1498G>T	ENSP00000514622.1:p.Glu500Ter
ENST00000699822.1:c.*1355G>T	ENSP00000514623.1:n.*1355G>T
ENST00000699823.1:c.1498G>T	ENSP00000514624.1:p.Glu500Ter
ENST00000699824.1:c.*1406G>T	ENSP00000514625.1:n.*1406G>T
ENST00000699825.1:c.1342G>T	ENSP00000514626.1:p.Glu448Ter
ENST00000699826.1:c.*1302G>T	ENSP00000514627.1:n.*1302G>T
ENST00000699827.1:c.1735G>T	ENSP00000514628.1:p.Glu579Ter
ENST00000699828.1:c.*993G>T	ENSP00000514629.1:n.*993G>T
ENST00000699833.1:n.3675G>T
ENST00000699837.1:c.1498G>T	ENSP00000514635.1:p.Glu500Ter
ENST00000699838.1:c.*1803G>T	ENSP00000514636.1:n.*1803G>T
ENST00000699839.1:c.2089G>T	ENSP00000514637.1:p.Glu697Ter
ENST00000699916.1:c.*1160G>T	ENSP00000514684.1:n.*1160G>T
ENST00000699917.1:c.*1352G>T	ENSP00000514685.1:n.*1352G>T
ENST00000699918.1:c.*1404G>T	ENSP00000514686.1:n.*1404G>T
ENST00000699919.1:c.*1490G>T	ENSP00000514687.1:n.*1490G>T
ENST00000699920.1:c.*1539G>T	ENSP00000514688.1:n.*1539G>T
ENST00000699928.1:c.989-3871G>T	ENSP00000514693.1:n.989-3871G>T
ENST00000699951.1:c.*999G>T	ENSP00000514706.1:n.*999G>T
ENST00000699952.1:c.803+10464G>T	ENSP00000514707.1:n.803+10464G>T
ENST00000265849.12:c.1903G>T MANE Select	ENSP00000265849.7:p.Glu635Ter
ENST00000642292.1:c.1498G>T	ENSP00000495524.1:p.Glu500Ter
ENST00000642456.1:c.1498G>T	ENSP00000493814.1:p.Glu500Ter
ENST00000643595.1:c.*1302G>T	ENSP00000494497.1:n.*1302G>T
ENST00000644110.1:c.1585G>T	ENSP00000496392.1:p.Glu529Ter
ENST00000265849.11:c.1903G>T	ENSP00000265849.7:p.Glu635Ter
ENST00000382321.5:c.804-3871G>T	ENSP00000371758.4:n.804-3871G>T
ENST00000406569.7:n.1678+225G>T
ENST00000441476.6:c.1585G>T	ENSP00000392843.2:p.Glu529Ter
ENST00000469652.1:n.63-3957G>T
NM_000535.5:c.1903G>T , LRG_161t1:c.1903G>T	NP_000526.1:p.Glu635Ter
NR_003085.2:n.1985G>T
XM_006715742.2:c.1897G>T	XP_006715805.1:p.Glu633Ter
XM_006715744.2:c.970G>T	XP_006715807.1:p.Glu324Ter
XM_011515427.1:c.1948G>T	XP_011513729.1:p.Glu650Ter
XM_011515428.1:c.1792G>T	XP_011513730.1:p.Glu598Ter
XM_011515429.1:c.1585G>T	XP_011513731.1:p.Glu529Ter
XM_011515430.1:c.1585G>T	XP_011513732.1:p.Glu529Ter
NM_000535.6:c.1903G>T	NP_000526.2:p.Glu635Ter
NM_001322003.1:c.1498G>T	NP_001308932.1:p.Glu500Ter
NM_001322004.1:c.1498G>T	NP_001308933.1:p.Glu500Ter
NM_001322005.1:c.1498G>T	NP_001308934.1:p.Glu500Ter
NM_001322006.1:c.1747G>T	NP_001308935.1:p.Glu583Ter
NM_001322007.1:c.1585G>T	NP_001308936.1:p.Glu529Ter
NM_001322008.1:c.1585G>T	NP_001308937.1:p.Glu529Ter
NM_001322009.1:c.1498G>T	NP_001308938.1:p.Glu500Ter
NM_001322010.1:c.1342G>T	NP_001308939.1:p.Glu448Ter
NM_001322011.1:c.970G>T	NP_001308940.1:p.Glu324Ter
NM_001322012.1:c.970G>T	NP_001308941.1:p.Glu324Ter
NM_001322013.1:c.1330G>T	NP_001308942.1:p.Glu444Ter
NM_001322014.1:c.1903G>T	NP_001308943.1:p.Glu635Ter
NM_001322015.1:c.1594G>T	NP_001308944.1:p.Glu532Ter
NR_136154.1:n.1990G>T
XM_006715744.4:c.970G>T	XP_006715807.1:p.Glu324Ter
XM_017012342.2:c.970G>T	XP_016867831.1:p.Glu324Ter
XM_024446800.1:c.1342G>T	XP_024302568.1:p.Glu448Ter
NM_000535.7:c.1903G>T MANE Select	NP_000526.2:p.Glu635Ter
NM_001322003.2:c.1498G>T	NP_001308932.1:p.Glu500Ter
NM_001322004.2:c.1498G>T	NP_001308933.1:p.Glu500Ter
NM_001322005.2:c.1498G>T	NP_001308934.1:p.Glu500Ter
NM_001322006.2:c.1747G>T	NP_001308935.1:p.Glu583Ter
NM_001322008.2:c.1585G>T	NP_001308937.1:p.Glu529Ter
NM_001322009.2:c.1498G>T	NP_001308938.1:p.Glu500Ter
NM_001322010.2:c.1342G>T	NP_001308939.1:p.Glu448Ter
NM_001322011.2:c.970G>T	NP_001308940.1:p.Glu324Ter
NM_001322012.2:c.970G>T	NP_001308941.1:p.Glu324Ter
NM_001322013.2:c.1330G>T	NP_001308942.1:p.Glu444Ter
NM_001322014.2:c.1903G>T	NP_001308943.1:p.Glu635Ter
NM_001322015.2:c.1594G>T	NP_001308944.1:p.Glu532Ter
NM_001322007.2:c.1585G>T	NP_001308936.1:p.Glu529Ter