Canonical Allele Identifier: CA406363742

Gene: ERCC2

Linked Data

• gnomAD v4: 19-45352763-G-A
• MyVariant Identifiers: chr19:g.45856021G>A (hg19) ; chr19:g.45352763G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352763G>A , CM000681.2:g.45352763G>A	GRCh38
NC_000019.9:g.45856021G>A , CM000681.1:g.45856021G>A	GRCh37
NC_000019.8:g.50547861G>A	NCBI36
NG_007067.2:g.22825C>T , LRG_461:g.22825C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1885C>T	ENSP00000375808.4:p.Gln629Ter
ENST00000682414.1:c.1885C>T	ENSP00000507019.1:p.Gln629Ter
ENST00000682508.1:n.1914C>T
ENST00000684218.1:c.*1143C>T	ENSP00000507804.1:n.*1143C>T
ENST00000684264.1:n.1441C>T
ENST00000684407.1:c.1762C>T	ENSP00000507775.1:p.Gln588Ter
ENST00000684458.1:c.*371C>T	ENSP00000508260.1:n.*371C>T
ENST00000684468.1:n.1597C>T
ENST00000391945.10:c.1885C>T MANE Select	ENSP00000375809.4:p.Gln629Ter
ENST00000646507.1:n.1982C>T
ENST00000391941.6:c.1813C>T	ENSP00000375805.2:p.Gln605Ter
ENST00000391942.6:n.1056C>T
ENST00000391944.7:c.1651C>T	ENSP00000375808.3:p.Gln551Ter
ENST00000391945.8:c.1885C>T	ENSP00000375809.3:p.Gln629Ter
ENST00000588652.5:n.1973C>T
NM_000400.3:c.1885C>T , LRG_461t1:c.1885C>T	NP_000391.1:p.Gln629Ter
XM_011526611.1:c.1807C>T	XP_011524913.1:p.Gln603Ter
XM_011526611.2:c.1807C>T	XP_011524913.1:p.Gln603Ter
XM_017026467.1:c.1762C>T	XP_016881956.1:p.Gln588Ter
XR_001753633.2:n.1932C>T
XR_001753634.2:n.1868C>T
NM_000400.4:c.1885C>T MANE Select	NP_000391.1:p.Gln629Ter