Canonical Allele Identifier: CA406373258

Gene: ERCC2

Linked Data

• dbSNP Id: rs757790912
• gnomAD v2: 19-45867247-G-A
• gnomAD v4: 19-45363989-G-A
• MyVariant Identifiers: chr19:g.45867247G>A (hg19) ; chr19:g.45363989G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45363989G>A , CM000681.2:g.45363989G>A	GRCh38
NC_000019.9:g.45867247G>A , CM000681.1:g.45867247G>A	GRCh37
NC_000019.8:g.50559087G>A	NCBI36
NG_007067.2:g.11599C>T , LRG_461:g.11599C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.946C>T	ENSP00000375808.4:p.Gln316Ter
ENST00000682414.1:c.946C>T	ENSP00000507019.1:p.Gln316Ter
ENST00000682508.1:n.975C>T
ENST00000684218.1:c.*204C>T	ENSP00000507804.1:n.*204C>T
ENST00000684407.1:c.823C>T	ENSP00000507775.1:p.Gln275Ter
ENST00000684458.1:c.946C>T	ENSP00000508260.1:p.Gln316Ter
ENST00000391945.10:c.946C>T MANE Select	ENSP00000375809.4:p.Gln316Ter
ENST00000586131.6:c.874C>T	ENSP00000464887.1:p.Gln292Ter
ENST00000587376.6:c.69C>T
ENST00000646507.1:n.1043C>T
ENST00000391941.6:c.874C>T	ENSP00000375805.2:p.Gln292Ter
ENST00000391944.7:c.712C>T	ENSP00000375808.3:p.Gln238Ter
ENST00000391945.8:c.946C>T	ENSP00000375809.3:p.Gln316Ter
ENST00000485403.6:c.874C>T	ENSP00000431229.2:p.Gln292Ter
ENST00000586131.5:c.874C>T	ENSP00000464887.1:p.Gln292Ter
ENST00000587376.5:c.69C>T
NM_000400.3:c.946C>T , LRG_461t1:c.946C>T	NP_000391.1:p.Gln316Ter
NM_001130867.1:c.874C>T	NP_001124339.1:p.Gln292Ter
XM_011526611.1:c.868C>T	XP_011524913.1:p.Gln290Ter
XR_935763.1:n.993C>T
XM_011526611.2:c.868C>T	XP_011524913.1:p.Gln290Ter
XM_017026467.1:c.823C>T	XP_016881956.1:p.Gln275Ter
XR_001753633.2:n.993C>T
XR_001753634.2:n.993C>T
NM_000400.4:c.946C>T MANE Select	NP_000391.1:p.Gln316Ter
NM_001130867.2:c.874C>T	NP_001124339.1:p.Gln292Ter