Canonical Allele Identifier: CA1139771892

Gene: MSH2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47475121_47475136del , CM000664.2:g.47475121_47475136del	GRCh38
NC_000002.11:g.47702260_47702275del , CM000664.1:g.47702260_47702275del	GRCh37
NC_000002.10:g.47555764_47555779del	NCBI36
NG_007110.2:g.76998_77013del , LRG_218:g.76998_77013del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.1856_1871del	ENSP00000495641.2:p.Tyr619PhefsTer11
ENST00000233146.7:c.1856_1871del MANE Select	ENSP00000233146.2:p.Tyr619PhefsTer11
ENST00000543555.6:c.1658_1673del	ENSP00000442697.1:p.Tyr553PhefsTer11
ENST00000644092.1:c.*156_*171del	ENSP00000496351.1:n.*156_*171del
ENST00000645339.1:c.1856_1871del	ENSP00000496441.1:p.Tyr619PhefsTer11
ENST00000645506.1:c.1856_1871del	ENSP00000495455.1:p.Tyr619PhefsTer11
ENST00000646415.1:c.1856_1871del	ENSP00000495543.1:p.Tyr619PhefsTer11
ENST00000233146.6:c.1856_1871del	ENSP00000233146.2:p.Tyr619PhefsTer11
ENST00000406134.5:c.1856_1871del	ENSP00000384199.1:p.Tyr619PhefsTer11
ENST00000543555.5:c.1658_1673del	ENSP00000442697.1:p.Tyr553PhefsTer11
ENST00000610696.4:c.*252_*267del	ENSP00000483159.1:n.*252_*267del
ENST00000613514.4:c.*396_*411del	ENSP00000484137.1:n.*396_*411del
ENST00000617333.3:c.*622_*637del	ENSP00000482468.1:n.*622_*637del
ENST00000617938.4:c.*828_*843del	ENSP00000481158.1:n.*828_*843del
ENST00000621359.2:c.1856_1871del	ENSP00000481416.1:p.Tyr619PhefsTer11
NM_000251.2:c.1856_1871del , LRG_218t1:c.1856_1871del	NP_000242.1:p.Tyr619PhefsTer11
NM_001258281.1:c.1658_1673del	NP_001245210.1:p.Tyr553PhefsTer11
XM_005264332.2:c.1856_1871del	XP_005264389.2:p.Tyr619PhefsTer11
XM_011532867.1:c.1856_1871del	XP_011531169.1:p.Tyr619PhefsTer11
XR_939685.1:n.1928_1943del
XM_005264332.4:c.1856_1871del	XP_005264389.2:p.Tyr619PhefsTer11
XM_011532867.2:c.1856_1871del	XP_011531169.1:p.Tyr619PhefsTer11
XR_001738747.2:n.1918_1933del
XR_939685.2:n.1918_1933del
NM_000251.3:c.1856_1871del MANE Select	NP_000242.1:p.Tyr619PhefsTer11