Canonical Allele Identifier: CA406362015

Gene: ERCC2

Linked Data

• ClinVar Variation Id: 1786781
• ClinVar RCV Id: RCV002432501
• gnomAD v4: 19-45352246-T-A
• MyVariant Identifiers: chr19:g.45855504T>A (hg19) ; chr19:g.45352246T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352246T>A , CM000681.2:g.45352246T>A	GRCh38
NC_000019.9:g.45855504T>A , CM000681.1:g.45855504T>A	GRCh37
NC_000019.8:g.50547344T>A	NCBI36
NG_007067.2:g.23342A>T , LRG_461:g.23342A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000391944.8:c.2153A>T	ENSP00000375808.4:p.Lys718Met
ENST00000682414.1:c.2153A>T	ENSP00000507019.1:p.Lys718Met
ENST00000682508.1:n.2182A>T
ENST00000684218.1:c.*1411A>T	ENSP00000507804.1:n.*1411A>T
ENST00000684264.1:n.1709A>T
ENST00000684407.1:c.2030A>T	ENSP00000507775.1:p.Lys677Met
ENST00000684458.1:c.*639A>T	ENSP00000508260.1:n.*639A>T
ENST00000684468.1:n.1865A>T
ENST00000391945.10:c.2153A>T MANE Select	ENSP00000375809.4:p.Lys718Met
ENST00000646507.1:n.2250A>T
ENST00000391941.6:c.2081A>T	ENSP00000375805.2:p.Lys694Met
ENST00000391942.6:n.1324A>T
ENST00000391944.7:c.1919A>T	ENSP00000375808.3:p.Lys640Met
ENST00000391945.8:c.2153A>T	ENSP00000375809.3:p.Lys718Met
ENST00000588652.5:n.2241A>T
NM_000400.3:c.2153A>T , LRG_461t1:c.2153A>T	NP_000391.1:p.Lys718Met
XM_011526611.1:c.2075A>T	XP_011524913.1:p.Lys692Met
XM_011526611.2:c.2075A>T	XP_011524913.1:p.Lys692Met
XM_017026467.1:c.2030A>T	XP_016881956.1:p.Lys677Met
XR_001753633.2:n.2200A>T
XR_001753634.2:n.2136A>T
NM_000400.4:c.2153A>T MANE Select	NP_000391.1:p.Lys718Met