Canonical Allele Identifier: CA366737979
Gene: PMS2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.5982888C>A , CM000669.2:g.5982888C>A GRCh38
NC_000007.13:g.6022519C>A , CM000669.1:g.6022519C>A GRCh37
NC_000007.12:g.5989045C>A NCBI36
NG_008466.1:g.31219G>T , LRG_161:g.31219G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000265849.12:c.2110G>T MANE Select ENSP00000265849.7:p.Asp704Tyr
ENST00000642292.1:c.1705G>T ENSP00000495524.1:p.Asp569Tyr
ENST00000642456.1:c.1705G>T ENSP00000493814.1:p.Asp569Tyr
ENST00000643595.1:c.*1509G>T ENSP00000494497.1:p.=
ENST00000644110.1:n.1792G>T ENSP00000496392.1:p.Asp598Tyr
ENST00000265849.11:c.2110G>T ENSP00000265849.7:p.Asp704Tyr
ENST00000382321.5:n.907G>T ENSP00000371758.4:p.Asp303Tyr
ENST00000406569.7:n.1678+4199G>T
ENST00000441476.6:c.1792G>T ENSP00000392843.2:p.Asp598Tyr
ENST00000469652.1:n.80G>T
NM_000535.5:c.2110G>T , LRG_161t1:c.2110G>T NP_000526.1:p.Asp704Tyr
NR_003085.2:n.2192G>T
XM_006715742.2:c.2104G>T XP_006715805.1:p.Asp702Tyr
XM_006715744.2:c.1177G>T XP_006715807.1:p.Asp393Tyr
XM_011515427.1:c.2155G>T XP_011513729.1:p.Asp719Tyr
XM_011515428.1:c.1999G>T XP_011513730.1:p.Asp667Tyr
XM_011515429.1:c.1792G>T XP_011513731.1:p.Asp598Tyr
XM_011515430.1:c.1792G>T XP_011513732.1:p.Asp598Tyr
NM_000535.6:c.2110G>T NP_000526.2:p.Asp704Tyr
NM_001322003.1:c.1705G>T NP_001308932.1:p.Asp569Tyr
NM_001322004.1:c.1705G>T NP_001308933.1:p.Asp569Tyr
NM_001322005.1:c.1705G>T NP_001308934.1:p.Asp569Tyr
NM_001322006.1:c.1954G>T NP_001308935.1:p.Asp652Tyr
NM_001322007.1:c.1792G>T NP_001308936.1:p.Asp598Tyr
NM_001322008.1:c.1792G>T NP_001308937.1:p.Asp598Tyr
NM_001322009.1:c.1705G>T NP_001308938.1:p.Asp569Tyr
NM_001322010.1:c.1549G>T NP_001308939.1:p.Asp517Tyr
NM_001322011.1:c.1177G>T NP_001308940.1:p.Asp393Tyr
NM_001322012.1:c.1177G>T NP_001308941.1:p.Asp393Tyr
NM_001322013.1:c.1537G>T NP_001308942.1:p.Asp513Tyr
NM_001322014.1:c.2110G>T NP_001308943.1:p.Asp704Tyr
NM_001322015.1:c.1801G>T NP_001308944.1:p.Asp601Tyr
NR_136154.1:n.2197G>T
XM_006715744.4:c.1177G>T XP_006715807.1:p.Asp393Tyr
XM_017012342.2:c.1177G>T XP_016867831.1:p.Asp393Tyr
XM_024446800.1:c.1549G>T XP_024302568.1:p.Asp517Tyr
NM_000535.7:c.2110G>T MANE Select NP_000526.2:p.Asp704Tyr
NM_001322003.2:c.1705G>T NP_001308932.1:p.Asp569Tyr
NM_001322004.2:c.1705G>T NP_001308933.1:p.Asp569Tyr
NM_001322005.2:c.1705G>T NP_001308934.1:p.Asp569Tyr
NM_001322006.2:c.1954G>T NP_001308935.1:p.Asp652Tyr
NM_001322008.2:c.1792G>T NP_001308937.1:p.Asp598Tyr
NM_001322009.2:c.1705G>T NP_001308938.1:p.Asp569Tyr
NM_001322010.2:c.1549G>T NP_001308939.1:p.Asp517Tyr
NM_001322011.2:c.1177G>T NP_001308940.1:p.Asp393Tyr
NM_001322012.2:c.1177G>T NP_001308941.1:p.Asp393Tyr
NM_001322013.2:c.1537G>T NP_001308942.1:p.Asp513Tyr
NM_001322014.2:c.2110G>T NP_001308943.1:p.Asp704Tyr
NM_001322015.2:c.1801G>T NP_001308944.1:p.Asp601Tyr
NM_001322007.2:c.1792G>T NP_001308936.1:p.Asp598Tyr