Canonical Allele Identifier: CA406361989

Gene: ERCC2

Linked Data

• MyVariant Identifiers: chr19:g.45855499A>C (hg19) ; chr19:g.45352241A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352241A>C , CM000681.2:g.45352241A>C	GRCh38
NC_000019.9:g.45855499A>C , CM000681.1:g.45855499A>C	GRCh37
NC_000019.8:g.50547339A>C	NCBI36
NG_007067.2:g.23347T>G , LRG_461:g.23347T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000391944.8:c.2158T>G	ENSP00000375808.4:p.Phe720Val
ENST00000682414.1:c.2158T>G	ENSP00000507019.1:p.Phe720Val
ENST00000682508.1:n.2187T>G
ENST00000684218.1:c.*1416T>G	ENSP00000507804.1:n.*1416T>G
ENST00000684264.1:n.1714T>G
ENST00000684407.1:c.2035T>G	ENSP00000507775.1:p.Phe679Val
ENST00000684458.1:c.*644T>G	ENSP00000508260.1:n.*644T>G
ENST00000684468.1:n.1870T>G
ENST00000391945.10:c.2158T>G MANE Select	ENSP00000375809.4:p.Phe720Val
ENST00000646507.1:n.2255T>G
ENST00000391941.6:c.2086T>G	ENSP00000375805.2:p.Phe696Val
ENST00000391942.6:n.1329T>G
ENST00000391944.7:c.1924T>G	ENSP00000375808.3:p.Phe642Val
ENST00000391945.8:c.2158T>G	ENSP00000375809.3:p.Phe720Val
ENST00000588652.5:n.2246T>G
NM_000400.3:c.2158T>G , LRG_461t1:c.2158T>G	NP_000391.1:p.Phe720Val
XM_011526611.1:c.2080T>G	XP_011524913.1:p.Phe694Val
XM_011526611.2:c.2080T>G	XP_011524913.1:p.Phe694Val
XM_017026467.1:c.2035T>G	XP_016881956.1:p.Phe679Val
XR_001753633.2:n.2205T>G
XR_001753634.2:n.2141T>G
NM_000400.4:c.2158T>G MANE Select	NP_000391.1:p.Phe720Val