Canonical Allele Identifier: CA9513011

Gene: ERCC2

Linked Data

• dbSNP Id: rs751084702
• ExAC: 19:45856014 C / A
• gnomAD v2: 19-45856014-C-A
• gnomAD v4: 19-45352756-C-A
• MyVariant Identifiers: chr19:g.45856014C>A (hg19) ; chr19:g.45352756C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352756C>A , CM000681.2:g.45352756C>A	GRCh38
NC_000019.9:g.45856014C>A , CM000681.1:g.45856014C>A	GRCh37
NC_000019.8:g.50547854C>A	NCBI36
NG_007067.2:g.22832G>T , LRG_461:g.22832G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1892G>T	ENSP00000375808.4:p.Arg631Leu
ENST00000682414.1:c.1892G>T	ENSP00000507019.1:p.Arg631Leu
ENST00000682508.1:n.1921G>T
ENST00000684218.1:c.*1150G>T	ENSP00000507804.1:n.*1150G>T
ENST00000684264.1:n.1448G>T
ENST00000684407.1:c.1769G>T	ENSP00000507775.1:p.Arg590Leu
ENST00000684458.1:c.*378G>T	ENSP00000508260.1:n.*378G>T
ENST00000684468.1:n.1604G>T
ENST00000391945.10:c.1892G>T MANE Select	ENSP00000375809.4:p.Arg631Leu
ENST00000646507.1:n.1989G>T
ENST00000391941.6:c.1820G>T	ENSP00000375805.2:p.Arg607Leu
ENST00000391942.6:n.1063G>T
ENST00000391944.7:c.1658G>T	ENSP00000375808.3:p.Arg553Leu
ENST00000391945.8:c.1892G>T	ENSP00000375809.3:p.Arg631Leu
ENST00000588652.5:n.1980G>T
NM_000400.3:c.1892G>T , LRG_461t1:c.1892G>T	NP_000391.1:p.Arg631Leu
XM_011526611.1:c.1814G>T	XP_011524913.1:p.Arg605Leu
XM_011526611.2:c.1814G>T	XP_011524913.1:p.Arg605Leu
XM_017026467.1:c.1769G>T	XP_016881956.1:p.Arg590Leu
XR_001753633.2:n.1939G>T
XR_001753634.2:n.1875G>T
NM_000400.4:c.1892G>T MANE Select	NP_000391.1:p.Arg631Leu