Canonical Allele Identifier: CA406364302

Gene: ERCC2

Linked Data

• MyVariant Identifiers: chr19:g.45856505G>T (hg19) ; chr19:g.45353247G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45353247G>T , CM000681.2:g.45353247G>T	GRCh38
NC_000019.9:g.45856505G>T , CM000681.1:g.45856505G>T	GRCh37
NC_000019.8:g.50548345G>T	NCBI36
NG_007067.2:g.22341C>A , LRG_461:g.22341C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1753C>A	ENSP00000375808.4:p.Gln585Lys
ENST00000682414.1:c.1753C>A	ENSP00000507019.1:p.Gln585Lys
ENST00000682508.1:n.1782C>A
ENST00000684218.1:c.*1011C>A	ENSP00000507804.1:n.*1011C>A
ENST00000684264.1:n.1309C>A
ENST00000684407.1:c.1630C>A	ENSP00000507775.1:p.Gln544Lys
ENST00000684458.1:c.*239C>A	ENSP00000508260.1:n.*239C>A
ENST00000684468.1:n.1465C>A
ENST00000391945.10:c.1753C>A MANE Select	ENSP00000375809.4:p.Gln585Lys
ENST00000587376.6:c.812C>A
ENST00000646507.1:n.1850C>A
ENST00000391941.6:c.1681C>A	ENSP00000375805.2:p.Gln561Lys
ENST00000391942.6:n.924C>A
ENST00000391944.7:c.1519C>A	ENSP00000375808.3:p.Gln507Lys
ENST00000391945.8:c.1753C>A	ENSP00000375809.3:p.Gln585Lys
ENST00000587376.5:c.812C>A
ENST00000588652.5:n.1841C>A
NM_000400.3:c.1753C>A , LRG_461t1:c.1753C>A	NP_000391.1:p.Gln585Lys
XM_011526611.1:c.1675C>A	XP_011524913.1:p.Gln559Lys
XR_935763.1:n.1736C>A
XM_011526611.2:c.1675C>A	XP_011524913.1:p.Gln559Lys
XM_017026467.1:c.1630C>A	XP_016881956.1:p.Gln544Lys
XR_001753633.2:n.1800C>A
XR_001753634.2:n.1736C>A
NM_000400.4:c.1753C>A MANE Select	NP_000391.1:p.Gln585Lys