Canonical Allele Identifier: CA1700302

Gene: CD207

Linked Data

• dbSNP Id: rs782658356
• ExAC: 2:71058924 TC / T
• gnomAD v2: 2-71058924-TC-T
• gnomAD v3: 2-70831793-TC-T
• gnomAD v4: 2-70831793-TC-T
• MyVariant Identifiers: chr2:g.71058925del (hg19) ; chr2:g.70831794del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.70831799del , CM000664.2:g.70831799del	GRCh38
NC_000002.11:g.71058930del , CM000664.1:g.71058930del	GRCh37
NC_000002.10:g.70912438del	NCBI36
NG_033914.1:g.9030del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000410009.5:c.743del MANE Select	ENSP00000386378.3:p.Gly248AspfsTer8
ENST00000410009.4:c.743del	ENSP00000386378.3:p.Gly248AspfsTer8
NM_015717.4:c.743del	NP_056532.4:p.Gly248AspfsTer8
XM_011532874.1:c.743del	XP_011531176.1:p.Gly248AspfsTer8
XM_011532875.1:c.743del	XP_011531177.1:p.Gly248AspfsTer8
XM_011532876.1:c.743del	XP_011531178.1:p.Gly248AspfsTer8
XM_011532875.2:c.743del	XP_011531177.1:p.Gly248AspfsTer8
XM_011532876.2:c.743del	XP_011531178.1:p.Gly248AspfsTer8
NM_015717.5:c.743del MANE Select	NP_056532.4:p.Gly248AspfsTer8