Canonical Allele Identifier: CA507818765

Gene: ERCC2

Linked Data

• ClinVar Variation Id: 1781428
• ClinVar RCV Id: RCV002413115
• dbSNP Id: rs1486564629
• gnomAD v2: 19-45856049-G-A
• gnomAD v3: 19-45352791-G-A
• gnomAD v4: 19-45352791-G-A
• MyVariant Identifiers: chr19:g.45856049G>A (hg19) ; chr19:g.45352791G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352791G>A , CM000681.2:g.45352791G>A	GRCh38
NC_000019.9:g.45856049G>A , CM000681.1:g.45856049G>A	GRCh37
NC_000019.8:g.50547889G>A	NCBI36
NG_007067.2:g.22797C>T , LRG_461:g.22797C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1857C>T	ENSP00000375808.4:p.Ile619=
ENST00000682414.1:c.1857C>T	ENSP00000507019.1:p.Ile619=
ENST00000682508.1:n.1886C>T
ENST00000684218.1:c.*1115C>T	ENSP00000507804.1:n.*1115C>T
ENST00000684264.1:n.1413C>T
ENST00000684407.1:c.1734C>T	ENSP00000507775.1:p.Ile578=
ENST00000684458.1:c.*343C>T	ENSP00000508260.1:n.*343C>T
ENST00000684468.1:n.1569C>T
ENST00000391945.10:c.1857C>T MANE Select	ENSP00000375809.4:p.Ile619=
ENST00000646507.1:n.1954C>T
ENST00000391941.6:c.1785C>T	ENSP00000375805.2:p.Ile595=
ENST00000391942.6:n.1028C>T
ENST00000391944.7:c.1623C>T	ENSP00000375808.3:p.Ile541=
ENST00000391945.8:c.1857C>T	ENSP00000375809.3:p.Ile619=
ENST00000588652.5:n.1945C>T
NM_000400.3:c.1857C>T , LRG_461t1:c.1857C>T	NP_000391.1:p.Ile619=
XM_011526611.1:c.1779C>T	XP_011524913.1:p.Ile593=
XM_011526611.2:c.1779C>T	XP_011524913.1:p.Ile593=
XM_017026467.1:c.1734C>T	XP_016881956.1:p.Ile578=
XR_001753633.2:n.1904C>T
XR_001753634.2:n.1840C>T
NM_000400.4:c.1857C>T MANE Select	NP_000391.1:p.Ile619=