Canonical Allele Identifier: CA158764

Gene: ERCC2

Linked Data

• ClinVar Variation Id: 134099
• ClinVar RCV Id: RCV000120771 ; RCV000662069 ; RCV000662070 ; RCV000662071 ; RCV000764209 ; RCV001329853 ; RCV001854613 ; RCV002256052
• dbSNP Id: rs200665173
• ExAC: 19:45856019 C / G
• gnomAD v2: 19-45856019-C-G
• gnomAD v3: 19-45352761-C-G
• gnomAD v4: 19-45352761-C-G
• MyVariant Identifiers: chr19:g.45856019C>G (hg19) ; chr19:g.45352761C>G (hg38)
• PubMed: PMID:24728327

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352761C>G , CM000681.2:g.45352761C>G	GRCh38
NC_000019.9:g.45856019C>G , CM000681.1:g.45856019C>G	GRCh37
NC_000019.8:g.50547859C>G	NCBI36
NG_007067.2:g.22827G>C , LRG_461:g.22827G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1887G>C	ENSP00000375808.4:p.Gln629His
ENST00000682414.1:c.1887G>C	ENSP00000507019.1:p.Gln629His
ENST00000682508.1:n.1916G>C
ENST00000684218.1:c.*1145G>C	ENSP00000507804.1:n.*1145G>C
ENST00000684264.1:n.1443G>C
ENST00000684407.1:c.1764G>C	ENSP00000507775.1:p.Gln588His
ENST00000684458.1:c.*373G>C	ENSP00000508260.1:n.*373G>C
ENST00000684468.1:n.1599G>C
ENST00000391945.10:c.1887G>C MANE Select	ENSP00000375809.4:p.Gln629His
ENST00000646507.1:n.1984G>C
ENST00000391941.6:c.1815G>C	ENSP00000375805.2:p.Gln605His
ENST00000391942.6:n.1058G>C
ENST00000391944.7:c.1653G>C	ENSP00000375808.3:p.Gln551His
ENST00000391945.8:c.1887G>C	ENSP00000375809.3:p.Gln629His
ENST00000588652.5:n.1975G>C
NM_000400.3:c.1887G>C , LRG_461t1:c.1887G>C	NP_000391.1:p.Gln629His
XM_011526611.1:c.1809G>C	XP_011524913.1:p.Gln603His
XM_011526611.2:c.1809G>C	XP_011524913.1:p.Gln603His
XM_017026467.1:c.1764G>C	XP_016881956.1:p.Gln588His
XR_001753633.2:n.1934G>C
XR_001753634.2:n.1870G>C
NM_000400.4:c.1887G>C MANE Select	NP_000391.1:p.Gln629His