Canonical Allele Identifier: CA507953345

Gene: ERCC2

Linked Data

• ClinVar Variation Id: 1515154
• ClinVar RCV Id: RCV002020881 ; RCV003471274
• dbSNP Id: rs1327017125
• gnomAD v2: 19-45855608-CCGCTGTGGGCAGAAG-C
• gnomAD v3: 19-45352350-CCGCTGTGGGCAGAAG-C
• gnomAD v4: 19-45352350-CCGCTGTGGGCAGAAG-C
• MyVariant Identifiers: chr19:g.45855609_45855623del (hg19) ; chr19:g.45352351_45352365del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352354_45352368del , CM000681.2:g.45352354_45352368del	GRCh38
NC_000019.9:g.45855612_45855626del , CM000681.1:g.45855612_45855626del	GRCh37
NC_000019.8:g.50547452_50547466del	NCBI36
NG_007067.2:g.23223_23237del , LRG_461:g.23223_23237del

Transcript Alleles

HGVS	Amino-acid change
ENST00000391944.8:c.2047-13_2048del
ENST00000682414.1:c.2047-13_2048del
ENST00000682508.1:n.2076-13_2077del
ENST00000684218.1:c.*1305-13_*1306del
ENST00000684264.1:n.1603-13_1604del
ENST00000684407.1:c.1924-13_1925del
ENST00000684458.1:c.*533-13_*534del
ENST00000684468.1:n.1759-13_1760del
ENST00000391945.10:c.2047-13_2048del
ENST00000646507.1:n.2144-13_2145del
ENST00000391941.6:c.1975-13_1976del
ENST00000391942.6:n.1218-13_1219del
ENST00000391944.7:c.1813-13_1814del
ENST00000391945.8:c.2047-13_2048del
ENST00000588652.5:n.2135-13_2136del
NM_000400.3:c.2047-13_2048del , LRG_461t1:c.2047-13_2048del
XM_011526611.1:c.1969-13_1970del
XM_011526611.2:c.1969-13_1970del
XM_017026467.1:c.1924-13_1925del
XR_001753633.2:n.2094-13_2095del
XR_001753634.2:n.2030-13_2031del
NM_000400.4:c.2047-13_2048del