Canonical Allele Identifier: CA507953378

Gene: ERCC2

Linked Data

• gnomAD v4: 19-45352563-A-G
• MyVariant Identifiers: chr19:g.45855821A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352563A>G , CM000681.2:g.45352563A>G	GRCh38
NC_000019.9:g.45855821A>G , CM000681.1:g.45855821A>G	GRCh37
NC_000019.8:g.50547661A>G	NCBI36
NG_007067.2:g.23025T>C , LRG_461:g.23025T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1989T>C	ENSP00000375808.4:p.Cys663=
ENST00000682414.1:c.1989T>C	ENSP00000507019.1:p.Cys663=
ENST00000682508.1:n.2018T>C
ENST00000684218.1:c.*1247T>C	ENSP00000507804.1:n.*1247T>C
ENST00000684264.1:n.1545T>C
ENST00000684407.1:c.1866T>C	ENSP00000507775.1:p.Cys622=
ENST00000684458.1:c.*475T>C	ENSP00000508260.1:n.*475T>C
ENST00000684468.1:n.1701T>C
ENST00000391945.10:c.1989T>C MANE Select	ENSP00000375809.4:p.Cys663=
ENST00000646507.1:n.2086T>C
ENST00000391941.6:c.1917T>C	ENSP00000375805.2:p.Cys639=
ENST00000391942.6:n.1160T>C
ENST00000391944.7:c.1755T>C	ENSP00000375808.3:p.Cys585=
ENST00000391945.8:c.1989T>C	ENSP00000375809.3:p.Cys663=
ENST00000588652.5:n.2077T>C
NM_000400.3:c.1989T>C , LRG_461t1:c.1989T>C	NP_000391.1:p.Cys663=
XM_011526611.1:c.1911T>C	XP_011524913.1:p.Cys637=
XM_011526611.2:c.1911T>C	XP_011524913.1:p.Cys637=
XM_017026467.1:c.1866T>C	XP_016881956.1:p.Cys622=
XR_001753633.2:n.2036T>C
XR_001753634.2:n.1972T>C
NM_000400.4:c.1989T>C MANE Select	NP_000391.1:p.Cys663=