Canonical Allele Identifier: CA10578634

Gene: PMS2

Linked Data

• ClinVar Variation Id: 232918
• ClinVar RCV Id: RCV000215184 ; RCV001496692
• dbSNP Id: rs876660072
• MyVariant Identifiers: chr7:g.6013072G>C (hg19) ; chr7:g.5973441G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.5973441G>C , CM000669.2:g.5973441G>C	GRCh38
NC_000007.13:g.6013072G>C , CM000669.1:g.6013072G>C	GRCh37
NC_000007.12:g.5979598G>C	NCBI36
NG_008466.1:g.40666C>G , LRG_161:g.40666C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699814.2:c.*1943C>G	ENSP00000514615.2:n.*1943C>G
ENST00000699840.2:c.2544C>G	ENSP00000514638.2:p.Thr848=
ENST00000699930.2:c.2439C>G	ENSP00000514695.2:p.Thr813=
ENST00000406569.8:c.1907C>G	ENSP00000514464.1:n.1907C>G
ENST00000644110.2:c.*2141C>G	ENSP00000496392.2:n.*2141C>G
ENST00000699752.1:c.2391C>G	ENSP00000514561.1:p.Thr797=
ENST00000699753.1:c.*1968C>G	ENSP00000514562.1:n.*1968C>G
ENST00000699754.1:c.2349C>G	ENSP00000514563.1:p.Thr783=
ENST00000699755.1:c.*1946C>G	ENSP00000514564.1:n.*1946C>G
ENST00000699756.1:c.*2134C>G	ENSP00000514565.1:n.*2134C>G
ENST00000699757.1:c.*1804C>G	ENSP00000514566.1:n.*1804C>G
ENST00000699758.1:c.*1804C>G	ENSP00000514567.1:n.*1804C>G
ENST00000699759.1:n.3401C>G
ENST00000699760.1:c.2229C>G	ENSP00000514568.1:p.Thr743=
ENST00000699761.1:c.2142C>G	ENSP00000514569.1:p.Thr714=
ENST00000699762.1:c.1974C>G	ENSP00000514570.1:p.Thr658=
ENST00000699763.1:c.*1637C>G	ENSP00000514571.1:n.*1637C>G
ENST00000699764.1:c.*865C>G	ENSP00000514572.1:n.*865C>G
ENST00000699765.1:c.*1542C>G	ENSP00000514573.1:n.*1542C>G
ENST00000699766.1:c.2580C>G	ENSP00000514574.1:p.Thr860=
ENST00000699767.1:c.*188C>G	ENSP00000514575.1:n.*188C>G
ENST00000699768.1:c.2403C>G	ENSP00000514576.1:p.Thr801=
ENST00000699811.1:c.2142C>G	ENSP00000514614.1:p.Thr714=
ENST00000699813.1:n.2660C>G
ENST00000699814.1:c.2170C>G
ENST00000699815.1:c.*2078C>G	ENSP00000514616.1:n.*2078C>G
ENST00000699816.1:c.*1437C>G	ENSP00000514617.1:n.*1437C>G
ENST00000699817.1:c.*2141C>G	ENSP00000514618.1:n.*2141C>G
ENST00000699818.1:c.2142C>G	ENSP00000514619.1:p.Thr714=
ENST00000699819.1:c.*1704C>G	ENSP00000514620.1:n.*1704C>G
ENST00000699820.1:c.*485C>G	ENSP00000514621.1:n.*485C>G
ENST00000699821.1:c.2175C>G	ENSP00000514622.1:p.Thr725=
ENST00000699822.1:c.*1999C>G	ENSP00000514623.1:n.*1999C>G
ENST00000699823.1:c.2142C>G	ENSP00000514624.1:p.Thr714=
ENST00000699824.1:c.*2050C>G	ENSP00000514625.1:n.*2050C>G
ENST00000699825.1:c.1986C>G	ENSP00000514626.1:p.Thr662=
ENST00000699826.1:c.*1946C>G	ENSP00000514627.1:n.*1946C>G
ENST00000699827.1:c.2379C>G	ENSP00000514628.1:p.Thr793=
ENST00000699828.1:c.*1637C>G	ENSP00000514629.1:n.*1637C>G
ENST00000699833.1:n.4319C>G
ENST00000699837.1:c.2142C>G	ENSP00000514635.1:p.Thr714=
ENST00000699838.1:c.*2447C>G	ENSP00000514636.1:n.*2447C>G
ENST00000699839.1:c.2733C>G	ENSP00000514637.1:p.Thr911=
ENST00000699916.1:c.*1804C>G	ENSP00000514684.1:n.*1804C>G
ENST00000699917.1:c.*1996C>G	ENSP00000514685.1:n.*1996C>G
ENST00000699918.1:c.*2048C>G	ENSP00000514686.1:n.*2048C>G
ENST00000699919.1:c.*2134C>G	ENSP00000514687.1:n.*2134C>G
ENST00000699920.1:c.*2183C>G	ENSP00000514688.1:n.*2183C>G
ENST00000699928.1:c.*485C>G	ENSP00000514693.1:n.*485C>G
ENST00000699951.1:c.*1600C>G	ENSP00000514706.1:n.*1600C>G
ENST00000699952.1:c.*101C>G	ENSP00000514707.1:n.*101C>G
ENST00000265849.12:c.2547C>G MANE Select	ENSP00000265849.7:p.Thr849=
ENST00000642292.1:c.2142C>G	ENSP00000495524.1:p.Thr714=
ENST00000642456.1:c.2142C>G	ENSP00000493814.1:p.Thr714=
ENST00000643595.1:c.*1946C>G	ENSP00000494497.1:n.*1946C>G
ENST00000644110.1:c.2229C>G	ENSP00000496392.1:p.Thr743=
ENST00000265849.11:c.2547C>G	ENSP00000265849.7:p.Thr849=
ENST00000382321.5:c.1344C>G	ENSP00000371758.4:p.Thr448=
ENST00000441476.6:c.2229C>G	ENSP00000392843.2:p.Thr743=
NM_000535.5:c.2547C>G , LRG_161t1:c.2547C>G	NP_000526.1:p.Thr849=
NR_003085.2:n.2629C>G
XM_006715742.2:c.2541C>G	XP_006715805.1:p.Thr847=
XM_006715744.2:c.1614C>G	XP_006715807.1:p.Thr538=
XM_011515427.1:c.2592C>G	XP_011513729.1:p.Thr864=
XM_011515428.1:c.2436C>G	XP_011513730.1:p.Thr812=
XM_011515429.1:c.2229C>G	XP_011513731.1:p.Thr743=
XM_011515430.1:c.2229C>G	XP_011513732.1:p.Thr743=
NM_000535.6:c.2547C>G	NP_000526.2:p.Thr849=
NM_001322003.1:c.2142C>G	NP_001308932.1:p.Thr714=
NM_001322004.1:c.2142C>G	NP_001308933.1:p.Thr714=
NM_001322005.1:c.2142C>G	NP_001308934.1:p.Thr714=
NM_001322006.1:c.2391C>G	NP_001308935.1:p.Thr797=
NM_001322007.1:c.2229C>G	NP_001308936.1:p.Thr743=
NM_001322008.1:c.2229C>G	NP_001308937.1:p.Thr743=
NM_001322009.1:c.2175C>G	NP_001308938.1:p.Thr725=
NM_001322010.1:c.1986C>G	NP_001308939.1:p.Thr662=
NM_001322011.1:c.1614C>G	NP_001308940.1:p.Thr538=
NM_001322012.1:c.1614C>G	NP_001308941.1:p.Thr538=
NM_001322013.1:c.1974C>G	NP_001308942.1:p.Thr658=
NM_001322014.1:c.2580C>G	NP_001308943.1:p.Thr860=
NM_001322015.1:c.2238C>G	NP_001308944.1:p.Thr746=
NR_136154.1:n.2591C>G
XM_006715744.4:c.1614C>G	XP_006715807.1:p.Thr538=
XM_017012342.2:c.1614C>G	XP_016867831.1:p.Thr538=
XM_024446800.1:c.1986C>G	XP_024302568.1:p.Thr662=
NM_000535.7:c.2547C>G MANE Select	NP_000526.2:p.Thr849=
NM_001322003.2:c.2142C>G	NP_001308932.1:p.Thr714=
NM_001322004.2:c.2142C>G	NP_001308933.1:p.Thr714=
NM_001322005.2:c.2142C>G	NP_001308934.1:p.Thr714=
NM_001322006.2:c.2391C>G	NP_001308935.1:p.Thr797=
NM_001322008.2:c.2229C>G	NP_001308937.1:p.Thr743=
NM_001322009.2:c.2175C>G	NP_001308938.1:p.Thr725=
NM_001322010.2:c.1986C>G	NP_001308939.1:p.Thr662=
NM_001322011.2:c.1614C>G	NP_001308940.1:p.Thr538=
NM_001322012.2:c.1614C>G	NP_001308941.1:p.Thr538=
NM_001322013.2:c.1974C>G	NP_001308942.1:p.Thr658=
NM_001322014.2:c.2580C>G	NP_001308943.1:p.Thr860=
NM_001322015.2:c.2238C>G	NP_001308944.1:p.Thr746=
NM_001322007.2:c.2229C>G	NP_001308936.1:p.Thr743=