Canonical Allele Identifier: CA507818754

Gene: ERCC2

Linked Data

• gnomAD v3: 19-45352771-A-ATCT
• gnomAD v4: 19-45352771-A-ATCT
• MyVariant Identifiers: chr19:g.45856029_45856030insTCT (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352771_45352772insTCT , CM000681.2:g.45352771_45352772insTCT	GRCh38
NC_000019.9:g.45856029_45856030insTCT , CM000681.1:g.45856029_45856030insTCT	GRCh37
NC_000019.8:g.50547869_50547870insTCT	NCBI36
NG_007067.2:g.22816_22817insAGA , LRG_461:g.22816_22817insAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1876_1877insAGA	ENSP00000375808.4:p.Val626delinsGluIle
ENST00000682414.1:c.1876_1877insAGA	ENSP00000507019.1:p.Val626delinsGluIle
ENST00000682508.1:n.1905_1906insAGA
ENST00000684218.1:c.*1134_*1135insAGA	ENSP00000507804.1:n.*1134_*1135insAGA
ENST00000684264.1:n.1432_1433insAGA
ENST00000684407.1:c.1753_1754insAGA	ENSP00000507775.1:p.Val585delinsGluIle
ENST00000684458.1:c.*362_*363insAGA	ENSP00000508260.1:n.*362_*363insAGA
ENST00000684468.1:n.1588_1589insAGA
ENST00000391945.10:c.1876_1877insAGA MANE Select	ENSP00000375809.4:p.Val626delinsGluIle
ENST00000646507.1:n.1973_1974insAGA
ENST00000391941.6:c.1804_1805insAGA	ENSP00000375805.2:p.Val602delinsGluIle
ENST00000391942.6:n.1047_1048insAGA
ENST00000391944.7:c.1642_1643insAGA	ENSP00000375808.3:p.Val548delinsGluIle
ENST00000391945.8:c.1876_1877insAGA	ENSP00000375809.3:p.Val626delinsGluIle
ENST00000588652.5:n.1964_1965insAGA
NM_000400.3:c.1876_1877insAGA , LRG_461t1:c.1876_1877insAGA	NP_000391.1:p.Val626delinsGluIle
XM_011526611.1:c.1798_1799insAGA	XP_011524913.1:p.Val600delinsGluIle
XM_011526611.2:c.1798_1799insAGA	XP_011524913.1:p.Val600delinsGluIle
XM_017026467.1:c.1753_1754insAGA	XP_016881956.1:p.Val585delinsGluIle
XR_001753633.2:n.1923_1924insAGA
XR_001753634.2:n.1859_1860insAGA
NM_000400.4:c.1876_1877insAGA MANE Select	NP_000391.1:p.Val626delinsGluIle