Canonical Allele Identifier: CA406362096

Gene: ERCC2

Linked Data

• ClinVar Variation Id: 3231676
• ClinVar RCV Id: RCV004518392
• gnomAD v4: 19-45352262-C-T
• MyVariant Identifiers: chr19:g.45855520C>T (hg19) ; chr19:g.45352262C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352262C>T , CM000681.2:g.45352262C>T	GRCh38
NC_000019.9:g.45855520C>T , CM000681.1:g.45855520C>T	GRCh37
NC_000019.8:g.50547360C>T	NCBI36
NG_007067.2:g.23326G>A , LRG_461:g.23326G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.2137G>A	ENSP00000375808.4:p.Gly713Ser
ENST00000682414.1:c.2137G>A	ENSP00000507019.1:p.Gly713Ser
ENST00000682508.1:n.2166G>A
ENST00000684218.1:c.*1395G>A	ENSP00000507804.1:n.*1395G>A
ENST00000684264.1:n.1693G>A
ENST00000684407.1:c.2014G>A	ENSP00000507775.1:p.Gly672Ser
ENST00000684458.1:c.*623G>A	ENSP00000508260.1:n.*623G>A
ENST00000684468.1:n.1849G>A
ENST00000391945.10:c.2137G>A MANE Select	ENSP00000375809.4:p.Gly713Ser
ENST00000646507.1:n.2234G>A
ENST00000391941.6:c.2065G>A	ENSP00000375805.2:p.Gly689Ser
ENST00000391942.6:n.1308G>A
ENST00000391944.7:c.1903G>A	ENSP00000375808.3:p.Gly635Ser
ENST00000391945.8:c.2137G>A	ENSP00000375809.3:p.Gly713Ser
ENST00000588652.5:n.2225G>A
NM_000400.3:c.2137G>A , LRG_461t1:c.2137G>A	NP_000391.1:p.Gly713Ser
XM_011526611.1:c.2059G>A	XP_011524913.1:p.Gly687Ser
XM_011526611.2:c.2059G>A	XP_011524913.1:p.Gly687Ser
XM_017026467.1:c.2014G>A	XP_016881956.1:p.Gly672Ser
XR_001753633.2:n.2184G>A
XR_001753634.2:n.2120G>A
NM_000400.4:c.2137G>A MANE Select	NP_000391.1:p.Gly713Ser