Canonical Allele Identifier: CA406362167

Gene: ERCC2

Linked Data

• dbSNP Id: rs1380605362
• gnomAD v2: 19-45855534-A-C
• gnomAD v3: 19-45352276-A-C
• gnomAD v4: 19-45352276-A-C
• MyVariant Identifiers: chr19:g.45855534A>C (hg19) ; chr19:g.45352276A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352276A>C , CM000681.2:g.45352276A>C	GRCh38
NC_000019.9:g.45855534A>C , CM000681.1:g.45855534A>C	GRCh37
NC_000019.8:g.50547374A>C	NCBI36
NG_007067.2:g.23312T>G , LRG_461:g.23312T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.2123T>G	ENSP00000375808.4:p.Leu708Arg
ENST00000682414.1:c.2123T>G	ENSP00000507019.1:p.Leu708Arg
ENST00000682508.1:n.2152T>G
ENST00000684218.1:c.*1381T>G	ENSP00000507804.1:n.*1381T>G
ENST00000684264.1:n.1679T>G
ENST00000684407.1:c.2000T>G	ENSP00000507775.1:p.Leu667Arg
ENST00000684458.1:c.*609T>G	ENSP00000508260.1:n.*609T>G
ENST00000684468.1:n.1835T>G
ENST00000391945.10:c.2123T>G MANE Select	ENSP00000375809.4:p.Leu708Arg
ENST00000646507.1:n.2220T>G
ENST00000391941.6:c.2051T>G	ENSP00000375805.2:p.Leu684Arg
ENST00000391942.6:n.1294T>G
ENST00000391944.7:c.1889T>G	ENSP00000375808.3:p.Leu630Arg
ENST00000391945.8:c.2123T>G	ENSP00000375809.3:p.Leu708Arg
ENST00000588652.5:n.2211T>G
NM_000400.3:c.2123T>G , LRG_461t1:c.2123T>G	NP_000391.1:p.Leu708Arg
XM_011526611.1:c.2045T>G	XP_011524913.1:p.Leu682Arg
XM_011526611.2:c.2045T>G	XP_011524913.1:p.Leu682Arg
XM_017026467.1:c.2000T>G	XP_016881956.1:p.Leu667Arg
XR_001753633.2:n.2170T>G
XR_001753634.2:n.2106T>G
NM_000400.4:c.2123T>G MANE Select	NP_000391.1:p.Leu708Arg