Canonical Allele Identifier: CA308948031

Gene: ERCC2

Linked Data

• dbSNP Id: rs895390582
• gnomAD v2: 19-45855196-CCA-C
• gnomAD v3: 19-45351938-CCA-C
• gnomAD v4: 19-45351938-CCA-C
• MyVariant Identifiers: chr19:g.45855197_45855198del (hg19) ; chr19:g.45351939_45351940del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45351939_45351940del , CM000681.2:g.45351939_45351940del	GRCh38
NC_000019.9:g.45855197_45855198del , CM000681.1:g.45855197_45855198del	GRCh37
NC_000019.8:g.50547037_50547038del	NCBI36
NG_007067.2:g.23648_23649del , LRG_461:g.23648_23649del

Transcript Alleles

HGVS	Amino-acid change
ENST00000391944.8:c.2459_2460del	ENSP00000375808.4:p.Leu820ArgfsTer21
ENST00000682414.1:c.2191-219_2191-218del	ENSP00000507019.1:n.2191-219_2191-218del
ENST00000682508.1:n.2220-219_2220-218del
ENST00000684218.1:c.*1449-219_*1449-218del	ENSP00000507804.1:n.*1449-219_*1449-218del
ENST00000684264.1:n.1747-219_1747-218del
ENST00000684407.1:c.2068-219_2068-218del	ENSP00000507775.1:n.2068-219_2068-218del
ENST00000684458.1:c.*677-219_*677-218del	ENSP00000508260.1:n.*677-219_*677-218del
ENST00000684468.1:n.1903-219_1903-218del
ENST00000391945.10:c.2191-219_2191-218del MANE Select	ENSP00000375809.4:n.2191-219_2191-218del
ENST00000646507.1:n.2288-219_2288-218del
ENST00000391942.6:n.1362-219_1362-218del
ENST00000391944.7:c.1957-219_1957-218del	ENSP00000375808.3:n.1957-219_1957-218del
ENST00000391945.8:c.2191-219_2191-218del	ENSP00000375809.3:n.2191-219_2191-218del
ENST00000588652.5:n.2279-219_2279-218del
NM_000400.3:c.2191-219_2191-218del , LRG_461t1:c.2191-219_2191-218del	NP_000391.1:n.2191-219_2191-218del
XM_011526611.1:c.2113-219_2113-218del	XP_011524913.1:n.2113-219_2113-218del
XM_011526611.2:c.2113-219_2113-218del	XP_011524913.1:n.2113-219_2113-218del
XM_017026467.1:c.2068-219_2068-218del	XP_016881956.1:n.2068-219_2068-218del
XR_001753633.2:n.2238-219_2238-218del
XR_001753634.2:n.2174-219_2174-218del
NM_000400.4:c.2191-219_2191-218del MANE Select	NP_000391.1:n.2191-219_2191-218del