Canonical Allele Identifier: CA406363229

Gene: ERCC2

Linked Data

• gnomAD v4: 19-45352582-A-G
• MyVariant Identifiers: chr19:g.45855840A>G (hg19) ; chr19:g.45352582A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352582A>G , CM000681.2:g.45352582A>G	GRCh38
NC_000019.9:g.45855840A>G , CM000681.1:g.45855840A>G	GRCh37
NC_000019.8:g.50547680A>G	NCBI36
NG_007067.2:g.23006T>C , LRG_461:g.23006T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1970T>C	ENSP00000375808.4:p.Met657Thr
ENST00000682414.1:c.1970T>C	ENSP00000507019.1:p.Met657Thr
ENST00000682508.1:n.1999T>C
ENST00000684218.1:c.*1228T>C	ENSP00000507804.1:n.*1228T>C
ENST00000684264.1:n.1526T>C
ENST00000684407.1:c.1847T>C	ENSP00000507775.1:p.Met616Thr
ENST00000684458.1:c.*456T>C	ENSP00000508260.1:n.*456T>C
ENST00000684468.1:n.1682T>C
ENST00000391945.10:c.1970T>C MANE Select	ENSP00000375809.4:p.Met657Thr
ENST00000646507.1:n.2067T>C
ENST00000391941.6:c.1898T>C	ENSP00000375805.2:p.Met633Thr
ENST00000391942.6:n.1141T>C
ENST00000391944.7:c.1736T>C	ENSP00000375808.3:p.Met579Thr
ENST00000391945.8:c.1970T>C	ENSP00000375809.3:p.Met657Thr
ENST00000588652.5:n.2058T>C
NM_000400.3:c.1970T>C , LRG_461t1:c.1970T>C	NP_000391.1:p.Met657Thr
XM_011526611.1:c.1892T>C	XP_011524913.1:p.Met631Thr
XM_011526611.2:c.1892T>C	XP_011524913.1:p.Met631Thr
XM_017026467.1:c.1847T>C	XP_016881956.1:p.Met616Thr
XR_001753633.2:n.2017T>C
XR_001753634.2:n.1953T>C
NM_000400.4:c.1970T>C MANE Select	NP_000391.1:p.Met657Thr