Canonical Allele Identifier: CA406363350

Gene: ERCC2

Linked Data

• MyVariant Identifiers: chr19:g.45855860G>C (hg19) ; chr19:g.45352602G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352602G>C , CM000681.2:g.45352602G>C	GRCh38
NC_000019.9:g.45855860G>C , CM000681.1:g.45855860G>C	GRCh37
NC_000019.8:g.50547700G>C	NCBI36
NG_007067.2:g.22986C>G , LRG_461:g.22986C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1950C>G	ENSP00000375808.4:p.Asp650Glu
ENST00000682414.1:c.1950C>G	ENSP00000507019.1:p.Asp650Glu
ENST00000682508.1:n.1979C>G
ENST00000684218.1:c.*1208C>G	ENSP00000507804.1:n.*1208C>G
ENST00000684264.1:n.1506C>G
ENST00000684407.1:c.1827C>G	ENSP00000507775.1:p.Asp609Glu
ENST00000684458.1:c.*436C>G	ENSP00000508260.1:n.*436C>G
ENST00000684468.1:n.1662C>G
ENST00000391945.10:c.1950C>G MANE Select	ENSP00000375809.4:p.Asp650Glu
ENST00000646507.1:n.2047C>G
ENST00000391941.6:c.1878C>G	ENSP00000375805.2:p.Asp626Glu
ENST00000391942.6:n.1121C>G
ENST00000391944.7:c.1716C>G	ENSP00000375808.3:p.Asp572Glu
ENST00000391945.8:c.1950C>G	ENSP00000375809.3:p.Asp650Glu
ENST00000588652.5:n.2038C>G
NM_000400.3:c.1950C>G , LRG_461t1:c.1950C>G	NP_000391.1:p.Asp650Glu
XM_011526611.1:c.1872C>G	XP_011524913.1:p.Asp624Glu
XM_011526611.2:c.1872C>G	XP_011524913.1:p.Asp624Glu
XM_017026467.1:c.1827C>G	XP_016881956.1:p.Asp609Glu
XR_001753633.2:n.1997C>G
XR_001753634.2:n.1933C>G
NM_000400.4:c.1950C>G MANE Select	NP_000391.1:p.Asp650Glu