Canonical Allele Identifier: CA406364415

Gene: ERCC2

Linked Data

• dbSNP Id: rs1568532765
• gnomAD v2: 19-45856534-G-A
• gnomAD v4: 19-45353276-G-A
• MyVariant Identifiers: chr19:g.45856534G>A (hg19) ; chr19:g.45353276G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45353276G>A , CM000681.2:g.45353276G>A	GRCh38
NC_000019.9:g.45856534G>A , CM000681.1:g.45856534G>A	GRCh37
NC_000019.8:g.50548374G>A	NCBI36
NG_007067.2:g.22312C>T , LRG_461:g.22312C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1724C>T	ENSP00000375808.4:p.Ala575Val
ENST00000682414.1:c.1724C>T	ENSP00000507019.1:p.Ala575Val
ENST00000682508.1:n.1753C>T
ENST00000684218.1:c.*982C>T	ENSP00000507804.1:n.*982C>T
ENST00000684264.1:n.1280C>T
ENST00000684407.1:c.1601C>T	ENSP00000507775.1:p.Ala534Val
ENST00000684458.1:c.*210C>T	ENSP00000508260.1:n.*210C>T
ENST00000684468.1:n.1436C>T
ENST00000391945.10:c.1724C>T MANE Select	ENSP00000375809.4:p.Ala575Val
ENST00000587376.6:c.783C>T
ENST00000646507.1:n.1821C>T
ENST00000391941.6:c.1652C>T	ENSP00000375805.2:p.Ala551Val
ENST00000391942.6:n.895C>T
ENST00000391944.7:c.1490C>T	ENSP00000375808.3:p.Ala497Val
ENST00000391945.8:c.1724C>T	ENSP00000375809.3:p.Ala575Val
ENST00000587376.5:c.783C>T
ENST00000588652.5:n.1812C>T
NM_000400.3:c.1724C>T , LRG_461t1:c.1724C>T	NP_000391.1:p.Ala575Val
XM_011526611.1:c.1646C>T	XP_011524913.1:p.Ala549Val
XR_935763.1:n.1707C>T
XM_011526611.2:c.1646C>T	XP_011524913.1:p.Ala549Val
XM_017026467.1:c.1601C>T	XP_016881956.1:p.Ala534Val
XR_001753633.2:n.1771C>T
XR_001753634.2:n.1707C>T
NM_000400.4:c.1724C>T MANE Select	NP_000391.1:p.Ala575Val