Canonical Allele Identifier: CA507953352

Gene: ERCC2

Linked Data

• gnomAD v4: 19-45352518-G-T
• MyVariant Identifiers: chr19:g.45855776G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352518G>T , CM000681.2:g.45352518G>T	GRCh38
NC_000019.9:g.45855776G>T , CM000681.1:g.45855776G>T	GRCh37
NC_000019.8:g.50547616G>T	NCBI36
NG_007067.2:g.23070C>A , LRG_461:g.23070C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000391944.8:c.2034C>A	ENSP00000375808.4:p.Val678=
ENST00000682414.1:c.2034C>A	ENSP00000507019.1:p.Val678=
ENST00000682508.1:n.2063C>A
ENST00000684218.1:c.*1292C>A	ENSP00000507804.1:n.*1292C>A
ENST00000684264.1:n.1590C>A
ENST00000684407.1:c.1911C>A	ENSP00000507775.1:p.Val637=
ENST00000684458.1:c.*520C>A	ENSP00000508260.1:n.*520C>A
ENST00000684468.1:n.1746C>A
ENST00000391945.10:c.2034C>A MANE Select	ENSP00000375809.4:p.Val678=
ENST00000646507.1:n.2131C>A
ENST00000391941.6:c.1962C>A	ENSP00000375805.2:p.Val654=
ENST00000391942.6:n.1205C>A
ENST00000391944.7:c.1800C>A	ENSP00000375808.3:p.Val600=
ENST00000391945.8:c.2034C>A	ENSP00000375809.3:p.Val678=
ENST00000588652.5:n.2122C>A
NM_000400.3:c.2034C>A , LRG_461t1:c.2034C>A	NP_000391.1:p.Val678=
XM_011526611.1:c.1956C>A	XP_011524913.1:p.Val652=
XM_011526611.2:c.1956C>A	XP_011524913.1:p.Val652=
XM_017026467.1:c.1911C>A	XP_016881956.1:p.Val637=
XR_001753633.2:n.2081C>A
XR_001753634.2:n.2017C>A
NM_000400.4:c.2034C>A MANE Select	NP_000391.1:p.Val678=