Canonical Allele Identifier: CA406363015

Gene: ERCC2

Linked Data

• ClinVar Variation Id: 3231669
• ClinVar RCV Id: RCV004518385
• gnomAD v4: 19-45352552-G-A
• MyVariant Identifiers: chr19:g.45855810G>A (hg19) ; chr19:g.45352552G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352552G>A , CM000681.2:g.45352552G>A	GRCh38
NC_000019.9:g.45855810G>A , CM000681.1:g.45855810G>A	GRCh37
NC_000019.8:g.50547650G>A	NCBI36
NG_007067.2:g.23036C>T , LRG_461:g.23036C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.2000C>T	ENSP00000375808.4:p.Ala667Val
ENST00000682414.1:c.2000C>T	ENSP00000507019.1:p.Ala667Val
ENST00000682508.1:n.2029C>T
ENST00000684218.1:c.*1258C>T	ENSP00000507804.1:n.*1258C>T
ENST00000684264.1:n.1556C>T
ENST00000684407.1:c.1877C>T	ENSP00000507775.1:p.Ala626Val
ENST00000684458.1:c.*486C>T	ENSP00000508260.1:n.*486C>T
ENST00000684468.1:n.1712C>T
ENST00000391945.10:c.2000C>T MANE Select	ENSP00000375809.4:p.Ala667Val
ENST00000646507.1:n.2097C>T
ENST00000391941.6:c.1928C>T	ENSP00000375805.2:p.Ala643Val
ENST00000391942.6:n.1171C>T
ENST00000391944.7:c.1766C>T	ENSP00000375808.3:p.Ala589Val
ENST00000391945.8:c.2000C>T	ENSP00000375809.3:p.Ala667Val
ENST00000588652.5:n.2088C>T
NM_000400.3:c.2000C>T , LRG_461t1:c.2000C>T	NP_000391.1:p.Ala667Val
XM_011526611.1:c.1922C>T	XP_011524913.1:p.Ala641Val
XM_011526611.2:c.1922C>T	XP_011524913.1:p.Ala641Val
XM_017026467.1:c.1877C>T	XP_016881956.1:p.Ala626Val
XR_001753633.2:n.2047C>T
XR_001753634.2:n.1983C>T
NM_000400.4:c.2000C>T MANE Select	NP_000391.1:p.Ala667Val