Canonical Allele Identifier: CA406367047

Gene: ERCC2

Linked Data

• MyVariant Identifiers: chr19:g.45860564G>C (hg19) ; chr19:g.45357306G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45357306G>C , CM000681.2:g.45357306G>C	GRCh38
NC_000019.9:g.45860564G>C , CM000681.1:g.45860564G>C	GRCh37
NC_000019.8:g.50552404G>C	NCBI36
NG_007067.2:g.18282C>G , LRG_461:g.18282C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000391944.8:c.1443C>G	ENSP00000375808.4:p.Phe481Leu
ENST00000682414.1:c.1443C>G	ENSP00000507019.1:p.Phe481Leu
ENST00000682508.1:n.1472C>G
ENST00000684218.1:c.*701C>G	ENSP00000507804.1:n.*701C>G
ENST00000684264.1:n.999C>G
ENST00000684407.1:c.1320C>G	ENSP00000507775.1:p.Phe440Leu
ENST00000684458.1:c.1373C>G	ENSP00000508260.1:p.Ser458Ter
ENST00000684468.1:n.1219C>G
ENST00000391945.10:c.1443C>G MANE Select	ENSP00000375809.4:p.Phe481Leu
ENST00000587376.6:c.566C>G
ENST00000646507.1:n.1540C>G
ENST00000391941.6:c.1371C>G	ENSP00000375805.2:p.Phe457Leu
ENST00000391942.6:n.614C>G
ENST00000391944.7:c.1209C>G	ENSP00000375808.3:p.Phe403Leu
ENST00000391945.8:c.1443C>G	ENSP00000375809.3:p.Phe481Leu
ENST00000587376.5:c.566C>G
ENST00000588652.5:n.1531C>G
NM_000400.3:c.1443C>G , LRG_461t1:c.1443C>G	NP_000391.1:p.Phe481Leu
XM_011526611.1:c.1365C>G	XP_011524913.1:p.Phe455Leu
XR_935763.1:n.1490C>G
XM_011526611.2:c.1365C>G	XP_011524913.1:p.Phe455Leu
XM_017026467.1:c.1320C>G	XP_016881956.1:p.Phe440Leu
XR_001753633.2:n.1490C>G
XR_001753634.2:n.1490C>G
NM_000400.4:c.1443C>G MANE Select	NP_000391.1:p.Phe481Leu