Canonical Allele Identifier: CA308950672

Gene: ERCC2

Linked Data

• ClinVar Variation Id: 1595497
• ClinVar RCV Id: RCV002109675 ; RCV002416431
• dbSNP Id: rs753388716
• MyVariant Identifiers: chr19:g.45855785G>A (hg19) ; chr19:g.45352527G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352527G>A , CM000681.2:g.45352527G>A	GRCh38
NC_000019.9:g.45855785G>A , CM000681.1:g.45855785G>A	GRCh37
NC_000019.8:g.50547625G>A	NCBI36
NG_007067.2:g.23061C>T , LRG_461:g.23061C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000391944.8:c.2025C>T	ENSP00000375808.4:p.Gly675=
ENST00000682414.1:c.2025C>T	ENSP00000507019.1:p.Gly675=
ENST00000682508.1:n.2054C>T
ENST00000684218.1:c.*1283C>T	ENSP00000507804.1:n.*1283C>T
ENST00000684264.1:n.1581C>T
ENST00000684407.1:c.1902C>T	ENSP00000507775.1:p.Gly634=
ENST00000684458.1:c.*511C>T	ENSP00000508260.1:n.*511C>T
ENST00000684468.1:n.1737C>T
ENST00000391945.10:c.2025C>T MANE Select	ENSP00000375809.4:p.Gly675=
ENST00000646507.1:n.2122C>T
ENST00000391941.6:c.1953C>T	ENSP00000375805.2:p.Gly651=
ENST00000391942.6:n.1196C>T
ENST00000391944.7:c.1791C>T	ENSP00000375808.3:p.Gly597=
ENST00000391945.8:c.2025C>T	ENSP00000375809.3:p.Gly675=
ENST00000588652.5:n.2113C>T
NM_000400.3:c.2025C>T , LRG_461t1:c.2025C>T	NP_000391.1:p.Gly675=
XM_011526611.1:c.1947C>T	XP_011524913.1:p.Gly649=
XM_011526611.2:c.1947C>T	XP_011524913.1:p.Gly649=
XM_017026467.1:c.1902C>T	XP_016881956.1:p.Gly634=
XR_001753633.2:n.2072C>T
XR_001753634.2:n.2008C>T
NM_000400.4:c.2025C>T MANE Select	NP_000391.1:p.Gly675=