Canonical Allele Identifier: CA406363853

Gene: ERCC2

Linked Data

• dbSNP Id: rs1453219809
• gnomAD v2: 19-45856047-A-G
• gnomAD v4: 19-45352789-A-G
• MyVariant Identifiers: chr19:g.45856047A>G (hg19) ; chr19:g.45352789A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352789A>G , CM000681.2:g.45352789A>G	GRCh38
NC_000019.9:g.45856047A>G , CM000681.1:g.45856047A>G	GRCh37
NC_000019.8:g.50547887A>G	NCBI36
NG_007067.2:g.22799T>C , LRG_461:g.22799T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1859T>C	ENSP00000375808.4:p.Met620Thr
ENST00000682414.1:c.1859T>C	ENSP00000507019.1:p.Met620Thr
ENST00000682508.1:n.1888T>C
ENST00000684218.1:c.*1117T>C	ENSP00000507804.1:n.*1117T>C
ENST00000684264.1:n.1415T>C
ENST00000684407.1:c.1736T>C	ENSP00000507775.1:p.Met579Thr
ENST00000684458.1:c.*345T>C	ENSP00000508260.1:n.*345T>C
ENST00000684468.1:n.1571T>C
ENST00000391945.10:c.1859T>C MANE Select	ENSP00000375809.4:p.Met620Thr
ENST00000646507.1:n.1956T>C
ENST00000391941.6:c.1787T>C	ENSP00000375805.2:p.Met596Thr
ENST00000391942.6:n.1030T>C
ENST00000391944.7:c.1625T>C	ENSP00000375808.3:p.Met542Thr
ENST00000391945.8:c.1859T>C	ENSP00000375809.3:p.Met620Thr
ENST00000588652.5:n.1947T>C
NM_000400.3:c.1859T>C , LRG_461t1:c.1859T>C	NP_000391.1:p.Met620Thr
XM_011526611.1:c.1781T>C	XP_011524913.1:p.Met594Thr
XM_011526611.2:c.1781T>C	XP_011524913.1:p.Met594Thr
XM_017026467.1:c.1736T>C	XP_016881956.1:p.Met579Thr
XR_001753633.2:n.1906T>C
XR_001753634.2:n.1842T>C
NM_000400.4:c.1859T>C MANE Select	NP_000391.1:p.Met620Thr