Canonical Allele Identifier: CA406362450

Gene: ERCC2

Linked Data

• MyVariant Identifiers: chr19:g.45855591T>A (hg19) ; chr19:g.45352333T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352333T>A , CM000681.2:g.45352333T>A	GRCh38
NC_000019.9:g.45855591T>A , CM000681.1:g.45855591T>A	GRCh37
NC_000019.8:g.50547431T>A	NCBI36
NG_007067.2:g.23255A>T , LRG_461:g.23255A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000391944.8:c.2066A>T	ENSP00000375808.4:p.Lys689Met
ENST00000682414.1:c.2066A>T	ENSP00000507019.1:p.Lys689Met
ENST00000682508.1:n.2095A>T
ENST00000684218.1:c.*1324A>T	ENSP00000507804.1:n.*1324A>T
ENST00000684264.1:n.1622A>T
ENST00000684407.1:c.1943A>T	ENSP00000507775.1:p.Lys648Met
ENST00000684458.1:c.*552A>T	ENSP00000508260.1:n.*552A>T
ENST00000684468.1:n.1778A>T
ENST00000391945.10:c.2066A>T MANE Select	ENSP00000375809.4:p.Lys689Met
ENST00000646507.1:n.2163A>T
ENST00000391941.6:c.1994A>T	ENSP00000375805.2:p.Lys665Met
ENST00000391942.6:n.1237A>T
ENST00000391944.7:c.1832A>T	ENSP00000375808.3:p.Lys611Met
ENST00000391945.8:c.2066A>T	ENSP00000375809.3:p.Lys689Met
ENST00000588652.5:n.2154A>T
NM_000400.3:c.2066A>T , LRG_461t1:c.2066A>T	NP_000391.1:p.Lys689Met
XM_011526611.1:c.1988A>T	XP_011524913.1:p.Lys663Met
XM_011526611.2:c.1988A>T	XP_011524913.1:p.Lys663Met
XM_017026467.1:c.1943A>T	XP_016881956.1:p.Lys648Met
XR_001753633.2:n.2113A>T
XR_001753634.2:n.2049A>T
NM_000400.4:c.2066A>T MANE Select	NP_000391.1:p.Lys689Met