Canonical Allele Identifier: CA507821572

Gene: ERCC2

Linked Data

• MyVariant Identifiers: chr19:g.45860549T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45357291T>C , CM000681.2:g.45357291T>C	GRCh38
NC_000019.9:g.45860549T>C , CM000681.1:g.45860549T>C	GRCh37
NC_000019.8:g.50552389T>C	NCBI36
NG_007067.2:g.18297A>G , LRG_461:g.18297A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1458A>G	ENSP00000375808.4:p.Ala486=
ENST00000682414.1:c.1458A>G	ENSP00000507019.1:p.Ala486=
ENST00000682508.1:n.1487A>G
ENST00000684218.1:c.*716A>G	ENSP00000507804.1:n.*716A>G
ENST00000684264.1:n.1014A>G
ENST00000684407.1:c.1335A>G	ENSP00000507775.1:p.Ala445=
ENST00000684458.1:c.*8A>G	ENSP00000508260.1:n.*8A>G
ENST00000684468.1:n.1234A>G
ENST00000391945.10:c.1458A>G MANE Select	ENSP00000375809.4:p.Ala486=
ENST00000587376.6:c.581A>G
ENST00000646507.1:n.1555A>G
ENST00000391941.6:c.1386A>G	ENSP00000375805.2:p.Ala462=
ENST00000391942.6:n.629A>G
ENST00000391944.7:c.1224A>G	ENSP00000375808.3:p.Ala408=
ENST00000391945.8:c.1458A>G	ENSP00000375809.3:p.Ala486=
ENST00000587376.5:c.581A>G
ENST00000588652.5:n.1546A>G
NM_000400.3:c.1458A>G , LRG_461t1:c.1458A>G	NP_000391.1:p.Ala486=
XM_011526611.1:c.1380A>G	XP_011524913.1:p.Ala460=
XR_935763.1:n.1505A>G
XM_011526611.2:c.1380A>G	XP_011524913.1:p.Ala460=
XM_017026467.1:c.1335A>G	XP_016881956.1:p.Ala445=
XR_001753633.2:n.1505A>G
XR_001753634.2:n.1505A>G
NM_000400.4:c.1458A>G MANE Select	NP_000391.1:p.Ala486=