Canonical Allele Identifier: CA2495872383

Gene: MSH2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47475041_47475045delinsGCAGA , CM000664.2:g.47475041_47475045delinsGCAGA	GRCh38
NC_000002.11:g.47702180_47702184delinsGCAGA , CM000664.1:g.47702180_47702184delinsGCAGA	GRCh37
NC_000002.10:g.47555684_47555688delinsGCAGA	NCBI36
NG_007110.2:g.76918_76922delinsGCAGA , LRG_218:g.76918_76922delinsGCAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.1776_1780delinsGCAGA	ENSP00000495641.2:p.Met592=
ENST00000233146.7:c.1776_1780delinsGCAGA MANE Select	ENSP00000233146.2:p.Met592=
ENST00000543555.6:c.1578_1582delinsGCAGA	ENSP00000442697.1:p.Met526=
ENST00000644092.1:c.*76_*80delinsGCAGA	ENSP00000496351.1:n.*76_*80delinsGCAGA
ENST00000645339.1:c.1776_1780delinsGCAGA	ENSP00000496441.1:p.Met592=
ENST00000645506.1:c.1776_1780delinsGCAGA	ENSP00000495455.1:p.Met592=
ENST00000646415.1:c.1776_1780delinsGCAGA	ENSP00000495543.1:p.Met592=
ENST00000233146.6:c.1776_1780delinsGCAGA	ENSP00000233146.2:p.Met592=
ENST00000406134.5:c.1776_1780delinsGCAGA	ENSP00000384199.1:p.Met592=
ENST00000543555.5:c.1578_1582delinsGCAGA	ENSP00000442697.1:p.Met526=
ENST00000610696.4:c.*172_*176delinsGCAGA	ENSP00000483159.1:n.*172_*176delinsGCAGA
ENST00000613514.4:c.*316_*320delinsGCAGA	ENSP00000484137.1:n.*316_*320delinsGCAGA
ENST00000617333.3:c.*542_*546delinsGCAGA	ENSP00000482468.1:n.*542_*546delinsGCAGA
ENST00000617938.4:c.*748_*752delinsGCAGA	ENSP00000481158.1:n.*748_*752delinsGCAGA
ENST00000621359.2:c.1776_1780delinsGCAGA	ENSP00000481416.1:p.Met592=
NM_000251.2:c.1776_1780delinsGCAGA , LRG_218t1:c.1776_1780delinsGCAGA	NP_000242.1:p.Met592=
NM_001258281.1:c.1578_1582delinsGCAGA	NP_001245210.1:p.Met526=
XM_005264332.2:c.1776_1780delinsGCAGA	XP_005264389.2:p.Met592=
XM_011532867.1:c.1776_1780delinsGCAGA	XP_011531169.1:p.Met592=
XR_939685.1:n.1848_1852delinsGCAGA
XM_005264332.4:c.1776_1780delinsGCAGA	XP_005264389.2:p.Met592=
XM_011532867.2:c.1776_1780delinsGCAGA	XP_011531169.1:p.Met592=
XR_001738747.2:n.1838_1842delinsGCAGA
XR_939685.2:n.1838_1842delinsGCAGA
NM_000251.3:c.1776_1780delinsGCAGA MANE Select	NP_000242.1:p.Met592=