Canonical Allele Identifier: CA126881

Gene: ERCC2

Linked Data

• ClinVar Variation Id: 16781
• ClinVar RCV Id: RCV000018270 ; RCV001851906 ; RCV002490383 ; RCV003155035 ; RCV003343601 ; RCV003460482
• dbSNP Id: rs121913018
• ExAC: 19:45855484 C / G
• gnomAD v2: 19-45855484-C-G
• gnomAD v3: 19-45352226-C-G
• gnomAD v4: 19-45352226-C-G
• MyVariant Identifiers: chr19:g.45855484C>G (hg19) ; chr19:g.45352226C>G (hg38)
• PubMed: PMID:9195225

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352226C>G , CM000681.2:g.45352226C>G	GRCh38
NC_000019.9:g.45855484C>G , CM000681.1:g.45855484C>G	GRCh37
NC_000019.8:g.50547324C>G	NCBI36
NG_007067.2:g.23362G>C , LRG_461:g.23362G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.2173G>C	ENSP00000375808.4:p.Ala725Pro
ENST00000682414.1:c.2173G>C	ENSP00000507019.1:p.Ala725Pro
ENST00000682508.1:n.2202G>C
ENST00000684218.1:c.*1431G>C	ENSP00000507804.1:n.*1431G>C
ENST00000684264.1:n.1729G>C
ENST00000684407.1:c.2050G>C	ENSP00000507775.1:p.Ala684Pro
ENST00000684458.1:c.*659G>C	ENSP00000508260.1:n.*659G>C
ENST00000684468.1:n.1885G>C
ENST00000391945.10:c.2173G>C MANE Select	ENSP00000375809.4:p.Ala725Pro
ENST00000646507.1:n.2270G>C
ENST00000391941.6:c.2101G>C	ENSP00000375805.2:p.Ala701Pro
ENST00000391942.6:n.1344G>C
ENST00000391944.7:c.1939G>C	ENSP00000375808.3:p.Ala647Pro
ENST00000391945.8:c.2173G>C	ENSP00000375809.3:p.Ala725Pro
ENST00000588652.5:n.2261G>C
NM_000400.3:c.2173G>C , LRG_461t1:c.2173G>C	NP_000391.1:p.Ala725Pro
XM_011526611.1:c.2095G>C	XP_011524913.1:p.Ala699Pro
XM_011526611.2:c.2095G>C	XP_011524913.1:p.Ala699Pro
XM_017026467.1:c.2050G>C	XP_016881956.1:p.Ala684Pro
XR_001753633.2:n.2220G>C
XR_001753634.2:n.2156G>C
NM_000400.4:c.2173G>C MANE Select	NP_000391.1:p.Ala725Pro