Canonical Allele Identifier: CA9512906

Gene: ERCC2

Linked Data

• ClinVar Variation Id: 2982617
• ClinVar RCV Id: RCV003845248
• dbSNP Id: rs776240435
• ExAC: 19:45855622 AGCGCAG / A
• gnomAD v2: 19-45855622-AGCGCAG-A
• gnomAD v4: 19-45352364-AGCGCAG-A
• MyVariant Identifiers: chr19:g.45855623_45855628del (hg19) ; chr19:g.45352366_45352371del (hg38) ; chr19:g.45352365_45352370del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352367_45352372del , CM000681.2:g.45352367_45352372del	GRCh38
NC_000019.9:g.45855625_45855630del , CM000681.1:g.45855625_45855630del	GRCh37
NC_000019.8:g.50547465_50547470del	NCBI36
NG_007067.2:g.23218_23223del , LRG_461:g.23218_23223del

Transcript Alleles

HGVS	Amino-acid change
ENST00000391944.8:c.2047-18_2047-13del	ENSP00000375808.4:n.2047-18_2047-13del
ENST00000682414.1:c.2047-18_2047-13del	ENSP00000507019.1:n.2047-18_2047-13del
ENST00000682508.1:n.2076-18_2076-13del
ENST00000684218.1:c.*1305-18_*1305-13del	ENSP00000507804.1:n.*1305-18_*1305-13del
ENST00000684264.1:n.1603-18_1603-13del
ENST00000684407.1:c.1924-18_1924-13del	ENSP00000507775.1:n.1924-18_1924-13del
ENST00000684458.1:c.*533-18_*533-13del	ENSP00000508260.1:n.*533-18_*533-13del
ENST00000684468.1:n.1759-18_1759-13del
ENST00000391945.10:c.2047-18_2047-13del MANE Select	ENSP00000375809.4:n.2047-18_2047-13del
ENST00000646507.1:n.2144-18_2144-13del
ENST00000391941.6:c.1975-18_1975-13del	ENSP00000375805.2:n.1975-18_1975-13del
ENST00000391942.6:n.1218-18_1218-13del
ENST00000391944.7:c.1813-18_1813-13del	ENSP00000375808.3:n.1813-18_1813-13del
ENST00000391945.8:c.2047-18_2047-13del	ENSP00000375809.3:n.2047-18_2047-13del
ENST00000588652.5:n.2135-18_2135-13del
NM_000400.3:c.2047-18_2047-13del , LRG_461t1:c.2047-18_2047-13del	NP_000391.1:n.2047-18_2047-13del
XM_011526611.1:c.1969-18_1969-13del	XP_011524913.1:n.1969-18_1969-13del
XM_011526611.2:c.1969-18_1969-13del	XP_011524913.1:n.1969-18_1969-13del
XM_017026467.1:c.1924-18_1924-13del	XP_016881956.1:n.1924-18_1924-13del
XR_001753633.2:n.2094-18_2094-13del
XR_001753634.2:n.2030-18_2030-13del
NM_000400.4:c.2047-18_2047-13del MANE Select	NP_000391.1:n.2047-18_2047-13del