Canonical Allele Identifier: CA406362749

Gene: ERCC2

Linked Data

• MyVariant Identifiers: chr19:g.45855775A>C (hg19) ; chr19:g.45352517A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352517A>C , CM000681.2:g.45352517A>C	GRCh38
NC_000019.9:g.45855775A>C , CM000681.1:g.45855775A>C	GRCh37
NC_000019.8:g.50547615A>C	NCBI36
NG_007067.2:g.23071T>G , LRG_461:g.23071T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000391944.8:c.2035T>G	ENSP00000375808.4:p.Phe679Val
ENST00000682414.1:c.2035T>G	ENSP00000507019.1:p.Phe679Val
ENST00000682508.1:n.2064T>G
ENST00000684218.1:c.*1293T>G	ENSP00000507804.1:n.*1293T>G
ENST00000684264.1:n.1591T>G
ENST00000684407.1:c.1912T>G	ENSP00000507775.1:p.Phe638Val
ENST00000684458.1:c.*521T>G	ENSP00000508260.1:n.*521T>G
ENST00000684468.1:n.1747T>G
ENST00000391945.10:c.2035T>G MANE Select	ENSP00000375809.4:p.Phe679Val
ENST00000646507.1:n.2132T>G
ENST00000391941.6:c.1963T>G	ENSP00000375805.2:p.Phe655Val
ENST00000391942.6:n.1206T>G
ENST00000391944.7:c.1801T>G	ENSP00000375808.3:p.Phe601Val
ENST00000391945.8:c.2035T>G	ENSP00000375809.3:p.Phe679Val
ENST00000588652.5:n.2123T>G
NM_000400.3:c.2035T>G , LRG_461t1:c.2035T>G	NP_000391.1:p.Phe679Val
XM_011526611.1:c.1957T>G	XP_011524913.1:p.Phe653Val
XM_011526611.2:c.1957T>G	XP_011524913.1:p.Phe653Val
XM_017026467.1:c.1912T>G	XP_016881956.1:p.Phe638Val
XR_001753633.2:n.2082T>G
XR_001753634.2:n.2018T>G
NM_000400.4:c.2035T>G MANE Select	NP_000391.1:p.Phe679Val