Canonical Allele Identifier: CA406362135

Gene: ERCC2

Linked Data

• gnomAD v4: 19-45352268-C-G
• MyVariant Identifiers: chr19:g.45855526C>G (hg19) ; chr19:g.45352268C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352268C>G , CM000681.2:g.45352268C>G	GRCh38
NC_000019.9:g.45855526C>G , CM000681.1:g.45855526C>G	GRCh37
NC_000019.8:g.50547366C>G	NCBI36
NG_007067.2:g.23320G>C , LRG_461:g.23320G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.2131G>C	ENSP00000375808.4:p.Asp711His
ENST00000682414.1:c.2131G>C	ENSP00000507019.1:p.Asp711His
ENST00000682508.1:n.2160G>C
ENST00000684218.1:c.*1389G>C	ENSP00000507804.1:n.*1389G>C
ENST00000684264.1:n.1687G>C
ENST00000684407.1:c.2008G>C	ENSP00000507775.1:p.Asp670His
ENST00000684458.1:c.*617G>C	ENSP00000508260.1:n.*617G>C
ENST00000684468.1:n.1843G>C
ENST00000391945.10:c.2131G>C MANE Select	ENSP00000375809.4:p.Asp711His
ENST00000646507.1:n.2228G>C
ENST00000391941.6:c.2059G>C	ENSP00000375805.2:p.Asp687His
ENST00000391942.6:n.1302G>C
ENST00000391944.7:c.1897G>C	ENSP00000375808.3:p.Asp633His
ENST00000391945.8:c.2131G>C	ENSP00000375809.3:p.Asp711His
ENST00000588652.5:n.2219G>C
NM_000400.3:c.2131G>C , LRG_461t1:c.2131G>C	NP_000391.1:p.Asp711His
XM_011526611.1:c.2053G>C	XP_011524913.1:p.Asp685His
XM_011526611.2:c.2053G>C	XP_011524913.1:p.Asp685His
XM_017026467.1:c.2008G>C	XP_016881956.1:p.Asp670His
XR_001753633.2:n.2178G>C
XR_001753634.2:n.2114G>C
NM_000400.4:c.2131G>C MANE Select	NP_000391.1:p.Asp711His