Canonical Allele Identifier: CA366734822

Gene: PMS2

Linked Data

• ClinVar Variation Id: 1022988
• ClinVar RCV Id: RCV001322973 ; RCV004035091
• dbSNP Id: rs876660627
• MyVariant Identifiers: chr7:g.6013073G>C (hg19) ; chr7:g.5973442G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5973442G>C , CM000669.2:g.5973442G>C	GRCh38
NC_000007.13:g.6013073G>C , CM000669.1:g.6013073G>C	GRCh37
NC_000007.12:g.5979599G>C	NCBI36
NG_008466.1:g.40665C>G , LRG_161:g.40665C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699814.2:c.*1942C>G	ENSP00000514615.2:n.*1942C>G
ENST00000699840.2:c.2543C>G	ENSP00000514638.2:p.Thr848Ser
ENST00000699930.2:c.2438C>G	ENSP00000514695.2:p.Thr813Ser
ENST00000406569.8:c.1906C>G	ENSP00000514464.1:n.1906C>G
ENST00000644110.2:c.*2140C>G	ENSP00000496392.2:n.*2140C>G
ENST00000699752.1:c.2390C>G	ENSP00000514561.1:p.Thr797Ser
ENST00000699753.1:c.*1967C>G	ENSP00000514562.1:n.*1967C>G
ENST00000699754.1:c.2348C>G	ENSP00000514563.1:p.Thr783Ser
ENST00000699755.1:c.*1945C>G	ENSP00000514564.1:n.*1945C>G
ENST00000699756.1:c.*2133C>G	ENSP00000514565.1:n.*2133C>G
ENST00000699757.1:c.*1803C>G	ENSP00000514566.1:n.*1803C>G
ENST00000699758.1:c.*1803C>G	ENSP00000514567.1:n.*1803C>G
ENST00000699759.1:n.3400C>G
ENST00000699760.1:c.2228C>G	ENSP00000514568.1:p.Thr743Ser
ENST00000699761.1:c.2141C>G	ENSP00000514569.1:p.Thr714Ser
ENST00000699762.1:c.1973C>G	ENSP00000514570.1:p.Thr658Ser
ENST00000699763.1:c.*1636C>G	ENSP00000514571.1:n.*1636C>G
ENST00000699764.1:c.*864C>G	ENSP00000514572.1:n.*864C>G
ENST00000699765.1:c.*1541C>G	ENSP00000514573.1:n.*1541C>G
ENST00000699766.1:c.2579C>G	ENSP00000514574.1:p.Thr860Ser
ENST00000699767.1:c.*187C>G	ENSP00000514575.1:n.*187C>G
ENST00000699768.1:c.2402C>G	ENSP00000514576.1:p.Thr801Ser
ENST00000699811.1:c.2141C>G	ENSP00000514614.1:p.Thr714Ser
ENST00000699813.1:n.2659C>G
ENST00000699814.1:c.2169C>G
ENST00000699815.1:c.*2077C>G	ENSP00000514616.1:n.*2077C>G
ENST00000699816.1:c.*1436C>G	ENSP00000514617.1:n.*1436C>G
ENST00000699817.1:c.*2140C>G	ENSP00000514618.1:n.*2140C>G
ENST00000699818.1:c.2141C>G	ENSP00000514619.1:p.Thr714Ser
ENST00000699819.1:c.*1703C>G	ENSP00000514620.1:n.*1703C>G
ENST00000699820.1:c.*484C>G	ENSP00000514621.1:n.*484C>G
ENST00000699821.1:c.2174C>G	ENSP00000514622.1:p.Thr725Ser
ENST00000699822.1:c.*1998C>G	ENSP00000514623.1:n.*1998C>G
ENST00000699823.1:c.2141C>G	ENSP00000514624.1:p.Thr714Ser
ENST00000699824.1:c.*2049C>G	ENSP00000514625.1:n.*2049C>G
ENST00000699825.1:c.1985C>G	ENSP00000514626.1:p.Thr662Ser
ENST00000699826.1:c.*1945C>G	ENSP00000514627.1:n.*1945C>G
ENST00000699827.1:c.2378C>G	ENSP00000514628.1:p.Thr793Ser
ENST00000699828.1:c.*1636C>G	ENSP00000514629.1:n.*1636C>G
ENST00000699833.1:n.4318C>G
ENST00000699837.1:c.2141C>G	ENSP00000514635.1:p.Thr714Ser
ENST00000699838.1:c.*2446C>G	ENSP00000514636.1:n.*2446C>G
ENST00000699839.1:c.2732C>G	ENSP00000514637.1:p.Thr911Ser
ENST00000699916.1:c.*1803C>G	ENSP00000514684.1:n.*1803C>G
ENST00000699917.1:c.*1995C>G	ENSP00000514685.1:n.*1995C>G
ENST00000699918.1:c.*2047C>G	ENSP00000514686.1:n.*2047C>G
ENST00000699919.1:c.*2133C>G	ENSP00000514687.1:n.*2133C>G
ENST00000699920.1:c.*2182C>G	ENSP00000514688.1:n.*2182C>G
ENST00000699928.1:c.*484C>G	ENSP00000514693.1:n.*484C>G
ENST00000699951.1:c.*1599C>G	ENSP00000514706.1:n.*1599C>G
ENST00000699952.1:c.*100C>G	ENSP00000514707.1:n.*100C>G
ENST00000265849.12:c.2546C>G MANE Select	ENSP00000265849.7:p.Thr849Ser
ENST00000642292.1:c.2141C>G	ENSP00000495524.1:p.Thr714Ser
ENST00000642456.1:c.2141C>G	ENSP00000493814.1:p.Thr714Ser
ENST00000643595.1:c.*1945C>G	ENSP00000494497.1:n.*1945C>G
ENST00000644110.1:c.2228C>G	ENSP00000496392.1:p.Thr743Ser
ENST00000265849.11:c.2546C>G	ENSP00000265849.7:p.Thr849Ser
ENST00000382321.5:c.1343C>G	ENSP00000371758.4:p.Thr448Ser
ENST00000441476.6:c.2228C>G	ENSP00000392843.2:p.Thr743Ser
NM_000535.5:c.2546C>G , LRG_161t1:c.2546C>G	NP_000526.1:p.Thr849Ser
NR_003085.2:n.2628C>G
XM_006715742.2:c.2540C>G	XP_006715805.1:p.Thr847Ser
XM_006715744.2:c.1613C>G	XP_006715807.1:p.Thr538Ser
XM_011515427.1:c.2591C>G	XP_011513729.1:p.Thr864Ser
XM_011515428.1:c.2435C>G	XP_011513730.1:p.Thr812Ser
XM_011515429.1:c.2228C>G	XP_011513731.1:p.Thr743Ser
XM_011515430.1:c.2228C>G	XP_011513732.1:p.Thr743Ser
NM_000535.6:c.2546C>G	NP_000526.2:p.Thr849Ser
NM_001322003.1:c.2141C>G	NP_001308932.1:p.Thr714Ser
NM_001322004.1:c.2141C>G	NP_001308933.1:p.Thr714Ser
NM_001322005.1:c.2141C>G	NP_001308934.1:p.Thr714Ser
NM_001322006.1:c.2390C>G	NP_001308935.1:p.Thr797Ser
NM_001322007.1:c.2228C>G	NP_001308936.1:p.Thr743Ser
NM_001322008.1:c.2228C>G	NP_001308937.1:p.Thr743Ser
NM_001322009.1:c.2174C>G	NP_001308938.1:p.Thr725Ser
NM_001322010.1:c.1985C>G	NP_001308939.1:p.Thr662Ser
NM_001322011.1:c.1613C>G	NP_001308940.1:p.Thr538Ser
NM_001322012.1:c.1613C>G	NP_001308941.1:p.Thr538Ser
NM_001322013.1:c.1973C>G	NP_001308942.1:p.Thr658Ser
NM_001322014.1:c.2579C>G	NP_001308943.1:p.Thr860Ser
NM_001322015.1:c.2237C>G	NP_001308944.1:p.Thr746Ser
NR_136154.1:n.2590C>G
XM_006715744.4:c.1613C>G	XP_006715807.1:p.Thr538Ser
XM_017012342.2:c.1613C>G	XP_016867831.1:p.Thr538Ser
XM_024446800.1:c.1985C>G	XP_024302568.1:p.Thr662Ser
NM_000535.7:c.2546C>G MANE Select	NP_000526.2:p.Thr849Ser
NM_001322003.2:c.2141C>G	NP_001308932.1:p.Thr714Ser
NM_001322004.2:c.2141C>G	NP_001308933.1:p.Thr714Ser
NM_001322005.2:c.2141C>G	NP_001308934.1:p.Thr714Ser
NM_001322006.2:c.2390C>G	NP_001308935.1:p.Thr797Ser
NM_001322008.2:c.2228C>G	NP_001308937.1:p.Thr743Ser
NM_001322009.2:c.2174C>G	NP_001308938.1:p.Thr725Ser
NM_001322010.2:c.1985C>G	NP_001308939.1:p.Thr662Ser
NM_001322011.2:c.1613C>G	NP_001308940.1:p.Thr538Ser
NM_001322012.2:c.1613C>G	NP_001308941.1:p.Thr538Ser
NM_001322013.2:c.1973C>G	NP_001308942.1:p.Thr658Ser
NM_001322014.2:c.2579C>G	NP_001308943.1:p.Thr860Ser
NM_001322015.2:c.2237C>G	NP_001308944.1:p.Thr746Ser
NM_001322007.2:c.2228C>G	NP_001308936.1:p.Thr743Ser