Canonical Allele Identifier: CA406362022

Gene: ERCC2

Linked Data

• MyVariant Identifiers: chr19:g.45855505T>A (hg19) ; chr19:g.45352247T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352247T>A , CM000681.2:g.45352247T>A	GRCh38
NC_000019.9:g.45855505T>A , CM000681.1:g.45855505T>A	GRCh37
NC_000019.8:g.50547345T>A	NCBI36
NG_007067.2:g.23341A>T , LRG_461:g.23341A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000391944.8:c.2152A>T	ENSP00000375808.4:p.Lys718Ter
ENST00000682414.1:c.2152A>T	ENSP00000507019.1:p.Lys718Ter
ENST00000682508.1:n.2181A>T
ENST00000684218.1:c.*1410A>T	ENSP00000507804.1:n.*1410A>T
ENST00000684264.1:n.1708A>T
ENST00000684407.1:c.2029A>T	ENSP00000507775.1:p.Lys677Ter
ENST00000684458.1:c.*638A>T	ENSP00000508260.1:n.*638A>T
ENST00000684468.1:n.1864A>T
ENST00000391945.10:c.2152A>T MANE Select	ENSP00000375809.4:p.Lys718Ter
ENST00000646507.1:n.2249A>T
ENST00000391941.6:c.2080A>T	ENSP00000375805.2:p.Lys694Ter
ENST00000391942.6:n.1323A>T
ENST00000391944.7:c.1918A>T	ENSP00000375808.3:p.Lys640Ter
ENST00000391945.8:c.2152A>T	ENSP00000375809.3:p.Lys718Ter
ENST00000588652.5:n.2240A>T
NM_000400.3:c.2152A>T , LRG_461t1:c.2152A>T	NP_000391.1:p.Lys718Ter
XM_011526611.1:c.2074A>T	XP_011524913.1:p.Lys692Ter
XM_011526611.2:c.2074A>T	XP_011524913.1:p.Lys692Ter
XM_017026467.1:c.2029A>T	XP_016881956.1:p.Lys677Ter
XR_001753633.2:n.2199A>T
XR_001753634.2:n.2135A>T
NM_000400.4:c.2152A>T MANE Select	NP_000391.1:p.Lys718Ter