Canonical Allele Identifier: CA406363911

Gene: ERCC2

Linked Data

• gnomAD v4: 19-45352804-C-T
• MyVariant Identifiers: chr19:g.45856062C>T (hg19) ; chr19:g.45352804C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352804C>T , CM000681.2:g.45352804C>T	GRCh38
NC_000019.9:g.45856062C>T , CM000681.1:g.45856062C>T	GRCh37
NC_000019.8:g.50547902C>T	NCBI36
NG_007067.2:g.22784G>A , LRG_461:g.22784G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1844G>A	ENSP00000375808.4:p.Gly615Glu
ENST00000682414.1:c.1844G>A	ENSP00000507019.1:p.Gly615Glu
ENST00000682508.1:n.1873G>A
ENST00000684218.1:c.*1102G>A	ENSP00000507804.1:n.*1102G>A
ENST00000684264.1:n.1400G>A
ENST00000684407.1:c.1721G>A	ENSP00000507775.1:p.Gly574Glu
ENST00000684458.1:c.*330G>A	ENSP00000508260.1:n.*330G>A
ENST00000684468.1:n.1556G>A
ENST00000391945.10:c.1844G>A MANE Select	ENSP00000375809.4:p.Gly615Glu
ENST00000646507.1:n.1941G>A
ENST00000391941.6:c.1772G>A	ENSP00000375805.2:p.Gly591Glu
ENST00000391942.6:n.1015G>A
ENST00000391944.7:c.1610G>A	ENSP00000375808.3:p.Gly537Glu
ENST00000391945.8:c.1844G>A	ENSP00000375809.3:p.Gly615Glu
ENST00000588652.5:n.1932G>A
NM_000400.3:c.1844G>A , LRG_461t1:c.1844G>A	NP_000391.1:p.Gly615Glu
XM_011526611.1:c.1766G>A	XP_011524913.1:p.Gly589Glu
XM_011526611.2:c.1766G>A	XP_011524913.1:p.Gly589Glu
XM_017026467.1:c.1721G>A	XP_016881956.1:p.Gly574Glu
XR_001753633.2:n.1891G>A
XR_001753634.2:n.1827G>A
NM_000400.4:c.1844G>A MANE Select	NP_000391.1:p.Gly615Glu