Canonical Allele Identifier: CA406360181

Gene: ERCC2

Linked Data

• MyVariant Identifiers: chr19:g.45854892G>T (hg19) ; chr19:g.45351634G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45351634G>T , CM000681.2:g.45351634G>T	GRCh38
NC_000019.9:g.45854892G>T , CM000681.1:g.45854892G>T	GRCh37
NC_000019.8:g.50546732G>T	NCBI36
NG_007067.2:g.23954C>A , LRG_461:g.23954C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000391944.8:c.*275C>A	ENSP00000375808.4:n.*275C>A
ENST00000682414.1:c.2278C>A	ENSP00000507019.1:p.Leu760Ile
ENST00000682508.1:n.2307C>A
ENST00000684218.1:c.*1536C>A	ENSP00000507804.1:n.*1536C>A
ENST00000684264.1:n.1834C>A
ENST00000684407.1:c.2155C>A	ENSP00000507775.1:p.Leu719Ile
ENST00000684458.1:c.*764C>A	ENSP00000508260.1:n.*764C>A
ENST00000684468.1:n.1990C>A
ENST00000391945.10:c.2278C>A MANE Select	ENSP00000375809.4:p.Leu760Ile
ENST00000646507.1:n.2375C>A
ENST00000391942.6:n.1449C>A
ENST00000391944.7:c.2044C>A	ENSP00000375808.3:p.Leu682Ile
ENST00000391945.8:c.2278C>A	ENSP00000375809.3:p.Leu760Ile
ENST00000588652.5:n.2366C>A
NM_000400.3:c.2278C>A , LRG_461t1:c.2278C>A	NP_000391.1:p.Leu760Ile
XM_011526611.1:c.2200C>A	XP_011524913.1:p.Leu734Ile
XM_011526611.2:c.2200C>A	XP_011524913.1:p.Leu734Ile
XM_017026467.1:c.2155C>A	XP_016881956.1:p.Leu719Ile
XR_001753633.2:n.2325C>A
NM_000400.4:c.2278C>A MANE Select	NP_000391.1:p.Leu760Ile