Canonical Allele Identifier: CA406364436

Gene: ERCC2

Linked Data

• MyVariant Identifiers: chr19:g.45856543T>A (hg19) ; chr19:g.45353285T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45353285T>A , CM000681.2:g.45353285T>A	GRCh38
NC_000019.9:g.45856543T>A , CM000681.1:g.45856543T>A	GRCh37
NC_000019.8:g.50548383T>A	NCBI36
NG_007067.2:g.22303A>T , LRG_461:g.22303A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1715A>T	ENSP00000375808.4:p.Gln572Leu
ENST00000682414.1:c.1715A>T	ENSP00000507019.1:p.Gln572Leu
ENST00000682508.1:n.1744A>T
ENST00000684218.1:c.*973A>T	ENSP00000507804.1:n.*973A>T
ENST00000684264.1:n.1271A>T
ENST00000684407.1:c.1592A>T	ENSP00000507775.1:p.Gln531Leu
ENST00000684458.1:c.*201A>T	ENSP00000508260.1:n.*201A>T
ENST00000684468.1:n.1427A>T
ENST00000391945.10:c.1715A>T MANE Select	ENSP00000375809.4:p.Gln572Leu
ENST00000587376.6:c.774A>T
ENST00000646507.1:n.1812A>T
ENST00000391941.6:c.1643A>T	ENSP00000375805.2:p.Gln548Leu
ENST00000391942.6:n.886A>T
ENST00000391944.7:c.1481A>T	ENSP00000375808.3:p.Gln494Leu
ENST00000391945.8:c.1715A>T	ENSP00000375809.3:p.Gln572Leu
ENST00000587376.5:c.774A>T
ENST00000588652.5:n.1803A>T
NM_000400.3:c.1715A>T , LRG_461t1:c.1715A>T	NP_000391.1:p.Gln572Leu
XM_011526611.1:c.1637A>T	XP_011524913.1:p.Gln546Leu
XR_935763.1:n.1698A>T
XM_011526611.2:c.1637A>T	XP_011524913.1:p.Gln546Leu
XM_017026467.1:c.1592A>T	XP_016881956.1:p.Gln531Leu
XR_001753633.2:n.1762A>T
XR_001753634.2:n.1698A>T
NM_000400.4:c.1715A>T MANE Select	NP_000391.1:p.Gln572Leu