Canonical Allele Identifier: CA406360913

Gene: ERCC2

Linked Data

• dbSNP Id: rs1373175045
• gnomAD v3: 19-45352222-T-A
• gnomAD v4: 19-45352222-T-A
• MyVariant Identifiers: chr19:g.45855480T>A (hg19) ; chr19:g.45352222T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352222T>A , CM000681.2:g.45352222T>A	GRCh38
NC_000019.9:g.45855480T>A , CM000681.1:g.45855480T>A	GRCh37
NC_000019.8:g.50547320T>A	NCBI36
NG_007067.2:g.23366A>T , LRG_461:g.23366A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.2177A>T	ENSP00000375808.4:p.Gln726Leu
ENST00000682414.1:c.2177A>T	ENSP00000507019.1:p.Gln726Leu
ENST00000682508.1:n.2206A>T
ENST00000684218.1:c.*1435A>T	ENSP00000507804.1:n.*1435A>T
ENST00000684264.1:n.1733A>T
ENST00000684407.1:c.2054A>T	ENSP00000507775.1:p.Gln685Leu
ENST00000684458.1:c.*663A>T	ENSP00000508260.1:n.*663A>T
ENST00000684468.1:n.1889A>T
ENST00000391945.10:c.2177A>T MANE Select	ENSP00000375809.4:p.Gln726Leu
ENST00000646507.1:n.2274A>T
ENST00000391941.6:c.2105A>T	ENSP00000375805.2:p.Gln702Leu
ENST00000391942.6:n.1348A>T
ENST00000391944.7:c.1943A>T	ENSP00000375808.3:p.Gln648Leu
ENST00000391945.8:c.2177A>T	ENSP00000375809.3:p.Gln726Leu
ENST00000588652.5:n.2265A>T
NM_000400.3:c.2177A>T , LRG_461t1:c.2177A>T	NP_000391.1:p.Gln726Leu
XM_011526611.1:c.2099A>T	XP_011524913.1:p.Gln700Leu
XM_011526611.2:c.2099A>T	XP_011524913.1:p.Gln700Leu
XM_017026467.1:c.2054A>T	XP_016881956.1:p.Gln685Leu
XR_001753633.2:n.2224A>T
XR_001753634.2:n.2160A>T
NM_000400.4:c.2177A>T MANE Select	NP_000391.1:p.Gln726Leu