Canonical Allele Identifier: CA1700307

Gene: CD207

Linked Data

• dbSNP Id: rs781907911
• ExAC: 2:71058948 C / G
• gnomAD v2: 2-71058948-C-G
• gnomAD v4: 2-70831817-C-G
• MyVariant Identifiers: chr2:g.71058948C>G (hg19) ; chr2:g.70831817C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.70831817C>G , CM000664.2:g.70831817C>G	GRCh38
NC_000002.11:g.71058948C>G , CM000664.1:g.71058948C>G	GRCh37
NC_000002.10:g.70912456C>G	NCBI36
NG_033914.1:g.9007G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000410009.5:c.720G>C MANE Select	ENSP00000386378.3:p.Glu240Asp
ENST00000410009.4:c.720G>C	ENSP00000386378.3:p.Glu240Asp
NM_015717.4:c.720G>C	NP_056532.4:p.Glu240Asp
XM_011532874.1:c.720G>C	XP_011531176.1:p.Glu240Asp
XM_011532875.1:c.720G>C	XP_011531177.1:p.Glu240Asp
XM_011532876.1:c.720G>C	XP_011531178.1:p.Glu240Asp
XM_011532875.2:c.720G>C	XP_011531177.1:p.Glu240Asp
XM_011532876.2:c.720G>C	XP_011531178.1:p.Glu240Asp
NM_015717.5:c.720G>C MANE Select	NP_056532.4:p.Glu240Asp