Canonical Allele Identifier: CA406366928

Gene: ERCC2

Linked Data

• MyVariant Identifiers: chr19:g.45860532G>T (hg19) ; chr19:g.45357274G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45357274G>T , CM000681.2:g.45357274G>T	GRCh38
NC_000019.9:g.45860532G>T , CM000681.1:g.45860532G>T	GRCh37
NC_000019.8:g.50552372G>T	NCBI36
NG_007067.2:g.18314C>A , LRG_461:g.18314C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1475C>A	ENSP00000375808.4:p.Pro492His
ENST00000682414.1:c.1475C>A	ENSP00000507019.1:p.Pro492His
ENST00000682508.1:n.1504C>A
ENST00000684218.1:c.*733C>A	ENSP00000507804.1:n.*733C>A
ENST00000684264.1:n.1031C>A
ENST00000684407.1:c.1352C>A	ENSP00000507775.1:p.Pro451His
ENST00000684458.1:c.*25C>A	ENSP00000508260.1:n.*25C>A
ENST00000684468.1:n.1251C>A
ENST00000391945.10:c.1475C>A MANE Select	ENSP00000375809.4:p.Pro492His
ENST00000587376.6:c.598C>A
ENST00000646507.1:n.1572C>A
ENST00000391941.6:c.1403C>A	ENSP00000375805.2:p.Pro468His
ENST00000391942.6:n.646C>A
ENST00000391944.7:c.1241C>A	ENSP00000375808.3:p.Pro414His
ENST00000391945.8:c.1475C>A	ENSP00000375809.3:p.Pro492His
ENST00000587376.5:c.598C>A
ENST00000588652.5:n.1563C>A
NM_000400.3:c.1475C>A , LRG_461t1:c.1475C>A	NP_000391.1:p.Pro492His
XM_011526611.1:c.1397C>A	XP_011524913.1:p.Pro466His
XR_935763.1:n.1522C>A
XM_011526611.2:c.1397C>A	XP_011524913.1:p.Pro466His
XM_017026467.1:c.1352C>A	XP_016881956.1:p.Pro451His
XR_001753633.2:n.1522C>A
XR_001753634.2:n.1522C>A
NM_000400.4:c.1475C>A MANE Select	NP_000391.1:p.Pro492His