Canonical Allele Identifier: CA406362810

Gene: ERCC2

Linked Data

• ClinVar Variation Id: 1784654
• ClinVar RCV Id: RCV002419683
• MyVariant Identifiers: chr19:g.45855784G>C (hg19) ; chr19:g.45352526G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352526G>C , CM000681.2:g.45352526G>C	GRCh38
NC_000019.9:g.45855784G>C , CM000681.1:g.45855784G>C	GRCh37
NC_000019.8:g.50547624G>C	NCBI36
NG_007067.2:g.23062C>G , LRG_461:g.23062C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.2026C>G	ENSP00000375808.4:p.Leu676Val
ENST00000682414.1:c.2026C>G	ENSP00000507019.1:p.Leu676Val
ENST00000682508.1:n.2055C>G
ENST00000684218.1:c.*1284C>G	ENSP00000507804.1:n.*1284C>G
ENST00000684264.1:n.1582C>G
ENST00000684407.1:c.1903C>G	ENSP00000507775.1:p.Leu635Val
ENST00000684458.1:c.*512C>G	ENSP00000508260.1:n.*512C>G
ENST00000684468.1:n.1738C>G
ENST00000391945.10:c.2026C>G MANE Select	ENSP00000375809.4:p.Leu676Val
ENST00000646507.1:n.2123C>G
ENST00000391941.6:c.1954C>G	ENSP00000375805.2:p.Leu652Val
ENST00000391942.6:n.1197C>G
ENST00000391944.7:c.1792C>G	ENSP00000375808.3:p.Leu598Val
ENST00000391945.8:c.2026C>G	ENSP00000375809.3:p.Leu676Val
ENST00000588652.5:n.2114C>G
NM_000400.3:c.2026C>G , LRG_461t1:c.2026C>G	NP_000391.1:p.Leu676Val
XM_011526611.1:c.1948C>G	XP_011524913.1:p.Leu650Val
XM_011526611.2:c.1948C>G	XP_011524913.1:p.Leu650Val
XM_017026467.1:c.1903C>G	XP_016881956.1:p.Leu635Val
XR_001753633.2:n.2073C>G
XR_001753634.2:n.2009C>G
NM_000400.4:c.2026C>G MANE Select	NP_000391.1:p.Leu676Val