Canonical Allele Identifier: CA406363516

Gene: ERCC2

Linked Data

• MyVariant Identifiers: chr19:g.45855884G>T (hg19) ; chr19:g.45352626G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352626G>T , CM000681.2:g.45352626G>T	GRCh38
NC_000019.9:g.45855884G>T , CM000681.1:g.45855884G>T	GRCh37
NC_000019.8:g.50547724G>T	NCBI36
NG_007067.2:g.22962C>A , LRG_461:g.22962C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1926C>A	ENSP00000375808.4:p.Asp642Glu
ENST00000682414.1:c.1926C>A	ENSP00000507019.1:p.Asp642Glu
ENST00000682508.1:n.1955C>A
ENST00000684218.1:c.*1184C>A	ENSP00000507804.1:n.*1184C>A
ENST00000684264.1:n.1482C>A
ENST00000684407.1:c.1803C>A	ENSP00000507775.1:p.Asp601Glu
ENST00000684458.1:c.*412C>A	ENSP00000508260.1:n.*412C>A
ENST00000684468.1:n.1638C>A
ENST00000391945.10:c.1926C>A MANE Select	ENSP00000375809.4:p.Asp642Glu
ENST00000646507.1:n.2023C>A
ENST00000391941.6:c.1854C>A	ENSP00000375805.2:p.Asp618Glu
ENST00000391942.6:n.1097C>A
ENST00000391944.7:c.1692C>A	ENSP00000375808.3:p.Asp564Glu
ENST00000391945.8:c.1926C>A	ENSP00000375809.3:p.Asp642Glu
ENST00000588652.5:n.2014C>A
NM_000400.3:c.1926C>A , LRG_461t1:c.1926C>A	NP_000391.1:p.Asp642Glu
XM_011526611.1:c.1848C>A	XP_011524913.1:p.Asp616Glu
XM_011526611.2:c.1848C>A	XP_011524913.1:p.Asp616Glu
XM_017026467.1:c.1803C>A	XP_016881956.1:p.Asp601Glu
XR_001753633.2:n.1973C>A
XR_001753634.2:n.1909C>A
NM_000400.4:c.1926C>A MANE Select	NP_000391.1:p.Asp642Glu