Canonical Allele Identifier: CA406373124

Gene: ERCC2

Linked Data

• dbSNP Id: rs1319246437
• gnomAD v4: 19-45363900-C-A
• MyVariant Identifiers: chr19:g.45867158C>A (hg19) ; chr19:g.45363900C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45363900C>A , CM000681.2:g.45363900C>A	GRCh38
NC_000019.9:g.45867158C>A , CM000681.1:g.45867158C>A	GRCh37
NC_000019.8:g.50558998C>A	NCBI36
NG_007067.2:g.11688G>T , LRG_461:g.11688G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.961G>T	ENSP00000375808.4:p.Gly321Cys
ENST00000682414.1:c.961G>T	ENSP00000507019.1:p.Gly321Cys
ENST00000682508.1:n.990G>T
ENST00000684218.1:c.*219G>T	ENSP00000507804.1:n.*219G>T
ENST00000684407.1:c.838G>T	ENSP00000507775.1:p.Gly280Cys
ENST00000684458.1:c.961G>T	ENSP00000508260.1:p.Gly321Cys
ENST00000391945.10:c.961G>T MANE Select	ENSP00000375809.4:p.Gly321Cys
ENST00000587376.6:c.84G>T
ENST00000646507.1:n.1058G>T
ENST00000391941.6:c.889G>T	ENSP00000375805.2:p.Gly297Cys
ENST00000391944.7:c.727G>T	ENSP00000375808.3:p.Gly243Cys
ENST00000391945.8:c.961G>T	ENSP00000375809.3:p.Gly321Cys
ENST00000485403.6:c.889G>T	ENSP00000431229.2:p.Gly297Cys
ENST00000587376.5:c.84G>T
NM_000400.3:c.961G>T , LRG_461t1:c.961G>T	NP_000391.1:p.Gly321Cys
NM_001130867.1:c.889G>T	NP_001124339.1:p.Gly297Cys
XM_011526611.1:c.883G>T	XP_011524913.1:p.Gly295Cys
XR_935763.1:n.1008G>T
XM_011526611.2:c.883G>T	XP_011524913.1:p.Gly295Cys
XM_017026467.1:c.838G>T	XP_016881956.1:p.Gly280Cys
XR_001753633.2:n.1008G>T
XR_001753634.2:n.1008G>T
NM_000400.4:c.961G>T MANE Select	NP_000391.1:p.Gly321Cys
NM_001130867.2:c.889G>T	NP_001124339.1:p.Gly297Cys