Canonical Allele Identifier: CA9512968

Gene: ERCC2

Linked Data

• ClinVar Variation Id: 1428469
• ClinVar RCV Id: RCV001936328
• dbSNP Id: rs149818919
• ExAC: 19:45855870 C / A
• gnomAD v2: 19-45855870-C-A
• gnomAD v3: 19-45352612-C-A
• gnomAD v4: 19-45352612-C-A
• MyVariant Identifiers: chr19:g.45855870C>A (hg19) ; chr19:g.45352612C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352612C>A , CM000681.2:g.45352612C>A	GRCh38
NC_000019.9:g.45855870C>A , CM000681.1:g.45855870C>A	GRCh37
NC_000019.8:g.50547710C>A	NCBI36
NG_007067.2:g.22976G>T , LRG_461:g.22976G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1940G>T	ENSP00000375808.4:p.Arg647Leu
ENST00000682414.1:c.1940G>T	ENSP00000507019.1:p.Arg647Leu
ENST00000682508.1:n.1969G>T
ENST00000684218.1:c.*1198G>T	ENSP00000507804.1:n.*1198G>T
ENST00000684264.1:n.1496G>T
ENST00000684407.1:c.1817G>T	ENSP00000507775.1:p.Arg606Leu
ENST00000684458.1:c.*426G>T	ENSP00000508260.1:n.*426G>T
ENST00000684468.1:n.1652G>T
ENST00000391945.10:c.1940G>T MANE Select	ENSP00000375809.4:p.Arg647Leu
ENST00000646507.1:n.2037G>T
ENST00000391941.6:c.1868G>T	ENSP00000375805.2:p.Arg623Leu
ENST00000391942.6:n.1111G>T
ENST00000391944.7:c.1706G>T	ENSP00000375808.3:p.Arg569Leu
ENST00000391945.8:c.1940G>T	ENSP00000375809.3:p.Arg647Leu
ENST00000588652.5:n.2028G>T
NM_000400.3:c.1940G>T , LRG_461t1:c.1940G>T	NP_000391.1:p.Arg647Leu
XM_011526611.1:c.1862G>T	XP_011524913.1:p.Arg621Leu
XM_011526611.2:c.1862G>T	XP_011524913.1:p.Arg621Leu
XM_017026467.1:c.1817G>T	XP_016881956.1:p.Arg606Leu
XR_001753633.2:n.1987G>T
XR_001753634.2:n.1923G>T
NM_000400.4:c.1940G>T MANE Select	NP_000391.1:p.Arg647Leu