Canonical Allele Identifier: CA126883

Gene: ERCC2

Linked Data

• ClinVar Variation Id: 16784
• ClinVar RCV Id: RCV000018274 ; RCV000018273 ; RCV000424822 ; RCV003466865
• dbSNP Id: rs121913020
• ExAC: 19:45871913 C / T
• gnomAD v2: 19-45871913-C-T
• gnomAD v3: 19-45368655-C-T
• gnomAD v4: 19-45368655-C-T
• MyVariant Identifiers: chr19:g.45871913C>T (hg19) ; chr19:g.45368655C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45368655C>T , CM000681.2:g.45368655C>T	GRCh38
NC_000019.9:g.45871913C>T , CM000681.1:g.45871913C>T	GRCh37
NC_000019.8:g.50563753C>T	NCBI36
NG_007067.2:g.6933G>A , LRG_461:g.6933G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.335G>A	ENSP00000375808.4:p.Arg112His
ENST00000682414.1:c.335G>A	ENSP00000507019.1:p.Arg112His
ENST00000682508.1:n.364G>A
ENST00000684218.1:c.335G>A	ENSP00000507804.1:p.Arg112His
ENST00000684407.1:c.212G>A	ENSP00000507775.1:p.Arg71His
ENST00000684458.1:c.335G>A	ENSP00000508260.1:p.Arg112His
ENST00000391945.10:c.335G>A MANE Select	ENSP00000375809.4:p.Arg112His
ENST00000586131.6:c.263G>A	ENSP00000464887.1:p.Arg88His
ENST00000646507.1:n.432G>A
ENST00000391941.6:c.263G>A	ENSP00000375805.2:p.Arg88His
ENST00000391944.7:c.335G>A	ENSP00000375808.3:p.Arg112His
ENST00000391945.8:c.335G>A	ENSP00000375809.3:p.Arg112His
ENST00000485403.6:c.263G>A	ENSP00000431229.2:p.Arg88His
ENST00000586131.5:c.263G>A	ENSP00000464887.1:p.Arg88His
ENST00000586441.1:n.327G>A
ENST00000586737.5:n.330G>A
ENST00000586856.1:c.185G>A	ENSP00000466998.1:p.Arg62His
ENST00000591309.5:c.335G>A	ENSP00000465207.1:p.Arg112His
NM_000400.3:c.335G>A , LRG_461t1:c.335G>A	NP_000391.1:p.Arg112His
NM_001130867.1:c.263G>A	NP_001124339.1:p.Arg88His
XM_011526611.1:c.257G>A	XP_011524913.1:p.Arg86His
XR_935763.1:n.382G>A
XM_011526611.2:c.257G>A	XP_011524913.1:p.Arg86His
XM_017026467.1:c.212G>A	XP_016881956.1:p.Arg71His
XR_001753633.2:n.382G>A
XR_001753634.2:n.382G>A
NM_000400.4:c.335G>A MANE Select	NP_000391.1:p.Arg112His
NM_001130867.2:c.263G>A	NP_001124339.1:p.Arg88His