Canonical Allele Identifier: CA406362829

Gene: ERCC2

Linked Data

• MyVariant Identifiers: chr19:g.45855786C>A (hg19) ; chr19:g.45352528C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352528C>A , CM000681.2:g.45352528C>A	GRCh38
NC_000019.9:g.45855786C>A , CM000681.1:g.45855786C>A	GRCh37
NC_000019.8:g.50547626C>A	NCBI36
NG_007067.2:g.23060G>T , LRG_461:g.23060G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000391944.8:c.2024G>T	ENSP00000375808.4:p.Gly675Val
ENST00000682414.1:c.2024G>T	ENSP00000507019.1:p.Gly675Val
ENST00000682508.1:n.2053G>T
ENST00000684218.1:c.*1282G>T	ENSP00000507804.1:n.*1282G>T
ENST00000684264.1:n.1580G>T
ENST00000684407.1:c.1901G>T	ENSP00000507775.1:p.Gly634Val
ENST00000684458.1:c.*510G>T	ENSP00000508260.1:n.*510G>T
ENST00000684468.1:n.1736G>T
ENST00000391945.10:c.2024G>T MANE Select	ENSP00000375809.4:p.Gly675Val
ENST00000646507.1:n.2121G>T
ENST00000391941.6:c.1952G>T	ENSP00000375805.2:p.Gly651Val
ENST00000391942.6:n.1195G>T
ENST00000391944.7:c.1790G>T	ENSP00000375808.3:p.Gly597Val
ENST00000391945.8:c.2024G>T	ENSP00000375809.3:p.Gly675Val
ENST00000588652.5:n.2112G>T
NM_000400.3:c.2024G>T , LRG_461t1:c.2024G>T	NP_000391.1:p.Gly675Val
XM_011526611.1:c.1946G>T	XP_011524913.1:p.Gly649Val
XM_011526611.2:c.1946G>T	XP_011524913.1:p.Gly649Val
XM_017026467.1:c.1901G>T	XP_016881956.1:p.Gly634Val
XR_001753633.2:n.2071G>T
XR_001753634.2:n.2007G>T
NM_000400.4:c.2024G>T MANE Select	NP_000391.1:p.Gly675Val