Canonical Allele Identifier: CA406362424

Gene: ERCC2

Linked Data

• gnomAD v3: 19-45352327-C-T
• gnomAD v4: 19-45352327-C-T
• MyVariant Identifiers: chr19:g.45855585C>T (hg19) ; chr19:g.45352327C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352327C>T , CM000681.2:g.45352327C>T	GRCh38
NC_000019.9:g.45855585C>T , CM000681.1:g.45855585C>T	GRCh37
NC_000019.8:g.50547425C>T	NCBI36
NG_007067.2:g.23261G>A , LRG_461:g.23261G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000391944.8:c.2072G>A	ENSP00000375808.4:p.Gly691Glu
ENST00000682414.1:c.2072G>A	ENSP00000507019.1:p.Gly691Glu
ENST00000682508.1:n.2101G>A
ENST00000684218.1:c.*1330G>A	ENSP00000507804.1:n.*1330G>A
ENST00000684264.1:n.1628G>A
ENST00000684407.1:c.1949G>A	ENSP00000507775.1:p.Gly650Glu
ENST00000684458.1:c.*558G>A	ENSP00000508260.1:n.*558G>A
ENST00000684468.1:n.1784G>A
ENST00000391945.10:c.2072G>A MANE Select	ENSP00000375809.4:p.Gly691Glu
ENST00000646507.1:n.2169G>A
ENST00000391941.6:c.2000G>A	ENSP00000375805.2:p.Gly667Glu
ENST00000391942.6:n.1243G>A
ENST00000391944.7:c.1838G>A	ENSP00000375808.3:p.Gly613Glu
ENST00000391945.8:c.2072G>A	ENSP00000375809.3:p.Gly691Glu
ENST00000588652.5:n.2160G>A
NM_000400.3:c.2072G>A , LRG_461t1:c.2072G>A	NP_000391.1:p.Gly691Glu
XM_011526611.1:c.1994G>A	XP_011524913.1:p.Gly665Glu
XM_011526611.2:c.1994G>A	XP_011524913.1:p.Gly665Glu
XM_017026467.1:c.1949G>A	XP_016881956.1:p.Gly650Glu
XR_001753633.2:n.2119G>A
XR_001753634.2:n.2055G>A
NM_000400.4:c.2072G>A MANE Select	NP_000391.1:p.Gly691Glu