Canonical Allele Identifier: CA406364419

Gene: ERCC2

Linked Data

• dbSNP Id: rs1201118906
• gnomAD v2: 19-45856535-C-T
• gnomAD v4: 19-45353277-C-T
• MyVariant Identifiers: chr19:g.45856535C>T (hg19) ; chr19:g.45353277C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45353277C>T , CM000681.2:g.45353277C>T	GRCh38
NC_000019.9:g.45856535C>T , CM000681.1:g.45856535C>T	GRCh37
NC_000019.8:g.50548375C>T	NCBI36
NG_007067.2:g.22311G>A , LRG_461:g.22311G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1723G>A	ENSP00000375808.4:p.Ala575Thr
ENST00000682414.1:c.1723G>A	ENSP00000507019.1:p.Ala575Thr
ENST00000682508.1:n.1752G>A
ENST00000684218.1:c.*981G>A	ENSP00000507804.1:n.*981G>A
ENST00000684264.1:n.1279G>A
ENST00000684407.1:c.1600G>A	ENSP00000507775.1:p.Ala534Thr
ENST00000684458.1:c.*209G>A	ENSP00000508260.1:n.*209G>A
ENST00000684468.1:n.1435G>A
ENST00000391945.10:c.1723G>A MANE Select	ENSP00000375809.4:p.Ala575Thr
ENST00000587376.6:c.782G>A
ENST00000646507.1:n.1820G>A
ENST00000391941.6:c.1651G>A	ENSP00000375805.2:p.Ala551Thr
ENST00000391942.6:n.894G>A
ENST00000391944.7:c.1489G>A	ENSP00000375808.3:p.Ala497Thr
ENST00000391945.8:c.1723G>A	ENSP00000375809.3:p.Ala575Thr
ENST00000587376.5:c.782G>A
ENST00000588652.5:n.1811G>A
NM_000400.3:c.1723G>A , LRG_461t1:c.1723G>A	NP_000391.1:p.Ala575Thr
XM_011526611.1:c.1645G>A	XP_011524913.1:p.Ala549Thr
XR_935763.1:n.1706G>A
XM_011526611.2:c.1645G>A	XP_011524913.1:p.Ala549Thr
XM_017026467.1:c.1600G>A	XP_016881956.1:p.Ala534Thr
XR_001753633.2:n.1770G>A
XR_001753634.2:n.1706G>A
NM_000400.4:c.1723G>A MANE Select	NP_000391.1:p.Ala575Thr