Canonical Allele Identifier: CA406361035

Gene: ERCC2

Linked Data

• MyVariant Identifiers: chr19:g.45855497G>T (hg19) ; chr19:g.45352239G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352239G>T , CM000681.2:g.45352239G>T	GRCh38
NC_000019.9:g.45855497G>T , CM000681.1:g.45855497G>T	GRCh37
NC_000019.8:g.50547337G>T	NCBI36
NG_007067.2:g.23349C>A , LRG_461:g.23349C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000391944.8:c.2160C>A	ENSP00000375808.4:p.Phe720Leu
ENST00000682414.1:c.2160C>A	ENSP00000507019.1:p.Phe720Leu
ENST00000682508.1:n.2189C>A
ENST00000684218.1:c.*1418C>A	ENSP00000507804.1:n.*1418C>A
ENST00000684264.1:n.1716C>A
ENST00000684407.1:c.2037C>A	ENSP00000507775.1:p.Phe679Leu
ENST00000684458.1:c.*646C>A	ENSP00000508260.1:n.*646C>A
ENST00000684468.1:n.1872C>A
ENST00000391945.10:c.2160C>A MANE Select	ENSP00000375809.4:p.Phe720Leu
ENST00000646507.1:n.2257C>A
ENST00000391941.6:c.2088C>A	ENSP00000375805.2:p.Phe696Leu
ENST00000391942.6:n.1331C>A
ENST00000391944.7:c.1926C>A	ENSP00000375808.3:p.Phe642Leu
ENST00000391945.8:c.2160C>A	ENSP00000375809.3:p.Phe720Leu
ENST00000588652.5:n.2248C>A
NM_000400.3:c.2160C>A , LRG_461t1:c.2160C>A	NP_000391.1:p.Phe720Leu
XM_011526611.1:c.2082C>A	XP_011524913.1:p.Phe694Leu
XM_011526611.2:c.2082C>A	XP_011524913.1:p.Phe694Leu
XM_017026467.1:c.2037C>A	XP_016881956.1:p.Phe679Leu
XR_001753633.2:n.2207C>A
XR_001753634.2:n.2143C>A
NM_000400.4:c.2160C>A MANE Select	NP_000391.1:p.Phe720Leu