Canonical Allele Identifier: CA507953322

Gene: ERCC2

Linked Data

• gnomAD v4: 19-45352320-C-T
• MyVariant Identifiers: chr19:g.45855578C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352320C>T , CM000681.2:g.45352320C>T	GRCh38
NC_000019.9:g.45855578C>T , CM000681.1:g.45855578C>T	GRCh37
NC_000019.8:g.50547418C>T	NCBI36
NG_007067.2:g.23268G>A , LRG_461:g.23268G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.2079G>A	ENSP00000375808.4:p.Leu693=
ENST00000682414.1:c.2079G>A	ENSP00000507019.1:p.Leu693=
ENST00000682508.1:n.2108G>A
ENST00000684218.1:c.*1337G>A	ENSP00000507804.1:n.*1337G>A
ENST00000684264.1:n.1635G>A
ENST00000684407.1:c.1956G>A	ENSP00000507775.1:p.Leu652=
ENST00000684458.1:c.*565G>A	ENSP00000508260.1:n.*565G>A
ENST00000684468.1:n.1791G>A
ENST00000391945.10:c.2079G>A MANE Select	ENSP00000375809.4:p.Leu693=
ENST00000646507.1:n.2176G>A
ENST00000391941.6:c.2007G>A	ENSP00000375805.2:p.Leu669=
ENST00000391942.6:n.1250G>A
ENST00000391944.7:c.1845G>A	ENSP00000375808.3:p.Leu615=
ENST00000391945.8:c.2079G>A	ENSP00000375809.3:p.Leu693=
ENST00000588652.5:n.2167G>A
NM_000400.3:c.2079G>A , LRG_461t1:c.2079G>A	NP_000391.1:p.Leu693=
XM_011526611.1:c.2001G>A	XP_011524913.1:p.Leu667=
XM_011526611.2:c.2001G>A	XP_011524913.1:p.Leu667=
XM_017026467.1:c.1956G>A	XP_016881956.1:p.Leu652=
XR_001753633.2:n.2126G>A
XR_001753634.2:n.2062G>A
NM_000400.4:c.2079G>A MANE Select	NP_000391.1:p.Leu693=