Canonical Allele Identifier: CA406360214

Gene: ERCC2

Linked Data

• dbSNP Id: rs1971783161
• MyVariant Identifiers: chr19:g.45854898G>A (hg19) ; chr19:g.45351640G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45351640G>A , CM000681.2:g.45351640G>A	GRCh38
NC_000019.9:g.45854898G>A , CM000681.1:g.45854898G>A	GRCh37
NC_000019.8:g.50546738G>A	NCBI36
NG_007067.2:g.23948C>T , LRG_461:g.23948C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000391944.8:c.*269C>T	ENSP00000375808.4:n.*269C>T
ENST00000682414.1:c.2272C>T	ENSP00000507019.1:p.Gln758Ter
ENST00000682508.1:n.2301C>T
ENST00000684218.1:c.*1530C>T	ENSP00000507804.1:n.*1530C>T
ENST00000684264.1:n.1828C>T
ENST00000684407.1:c.2149C>T	ENSP00000507775.1:p.Gln717Ter
ENST00000684458.1:c.*758C>T	ENSP00000508260.1:n.*758C>T
ENST00000684468.1:n.1984C>T
ENST00000391945.10:c.2272C>T MANE Select	ENSP00000375809.4:p.Gln758Ter
ENST00000646507.1:n.2369C>T
ENST00000391942.6:n.1443C>T
ENST00000391944.7:c.2038C>T	ENSP00000375808.3:p.Gln680Ter
ENST00000391945.8:c.2272C>T	ENSP00000375809.3:p.Gln758Ter
ENST00000588652.5:n.2360C>T
NM_000400.3:c.2272C>T , LRG_461t1:c.2272C>T	NP_000391.1:p.Gln758Ter
XM_011526611.1:c.2194C>T	XP_011524913.1:p.Gln732Ter
XM_011526611.2:c.2194C>T	XP_011524913.1:p.Gln732Ter
XM_017026467.1:c.2149C>T	XP_016881956.1:p.Gln717Ter
XR_001753633.2:n.2319C>T
NM_000400.4:c.2272C>T MANE Select	NP_000391.1:p.Gln758Ter