Canonical Allele Identifier: CA9513018

Gene: ERCC2

Linked Data

• ClinVar Variation Id: 1545483
• ClinVar RCV Id: RCV002407344 ; RCV002167940
• dbSNP Id: rs146538967
• ExAC: 19:45856031 G / A
• gnomAD v2: 19-45856031-G-A
• gnomAD v3: 19-45352773-G-A
• gnomAD v4: 19-45352773-G-A
• MyVariant Identifiers: chr19:g.45856031G>A (hg19) ; chr19:g.45352773G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352773G>A , CM000681.2:g.45352773G>A	GRCh38
NC_000019.9:g.45856031G>A , CM000681.1:g.45856031G>A	GRCh37
NC_000019.8:g.50547871G>A	NCBI36
NG_007067.2:g.22815C>T , LRG_461:g.22815C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1875C>T	ENSP00000375808.4:p.Tyr625=
ENST00000682414.1:c.1875C>T	ENSP00000507019.1:p.Tyr625=
ENST00000682508.1:n.1904C>T
ENST00000684218.1:c.*1133C>T	ENSP00000507804.1:n.*1133C>T
ENST00000684264.1:n.1431C>T
ENST00000684407.1:c.1752C>T	ENSP00000507775.1:p.Tyr584=
ENST00000684458.1:c.*361C>T	ENSP00000508260.1:n.*361C>T
ENST00000684468.1:n.1587C>T
ENST00000391945.10:c.1875C>T MANE Select	ENSP00000375809.4:p.Tyr625=
ENST00000646507.1:n.1972C>T
ENST00000391941.6:c.1803C>T	ENSP00000375805.2:p.Tyr601=
ENST00000391942.6:n.1046C>T
ENST00000391944.7:c.1641C>T	ENSP00000375808.3:p.Tyr547=
ENST00000391945.8:c.1875C>T	ENSP00000375809.3:p.Tyr625=
ENST00000588652.5:n.1963C>T
NM_000400.3:c.1875C>T , LRG_461t1:c.1875C>T	NP_000391.1:p.Tyr625=
XM_011526611.1:c.1797C>T	XP_011524913.1:p.Tyr599=
XM_011526611.2:c.1797C>T	XP_011524913.1:p.Tyr599=
XM_017026467.1:c.1752C>T	XP_016881956.1:p.Tyr584=
XR_001753633.2:n.1922C>T
XR_001753634.2:n.1858C>T
NM_000400.4:c.1875C>T MANE Select	NP_000391.1:p.Tyr625=