Canonical Allele Identifier: CA1700280

Gene: CD207

Linked Data

• dbSNP Id: rs3213747
• ExAC: 2:71058795 G / A
• gnomAD v2: 2-71058795-G-A
• gnomAD v3: 2-70831664-G-A
• gnomAD v4: 2-70831664-G-A
• MyVariant Identifiers: chr2:g.71058795G>A (hg19) ; chr2:g.70831664G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.70831664G>A , CM000664.2:g.70831664G>A	GRCh38
NC_000002.11:g.71058795G>A , CM000664.1:g.71058795G>A	GRCh37
NC_000002.10:g.70912303G>A	NCBI36
NG_033914.1:g.9160C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000410009.5:c.836+37C>T MANE Select	ENSP00000386378.3:n.836+37C>T
ENST00000410009.4:c.836+37C>T	ENSP00000386378.3:n.836+37C>T
NM_015717.4:c.836+37C>T	NP_056532.4:n.836+37C>T
XM_011532874.1:c.836+37C>T	XP_011531176.1:n.836+37C>T
XM_011532875.1:c.836+37C>T	XP_011531177.1:n.836+37C>T
XM_011532876.1:c.836+37C>T	XP_011531178.1:n.836+37C>T
XM_011532875.2:c.836+37C>T	XP_011531177.1:n.836+37C>T
XM_011532876.2:c.836+37C>T	XP_011531178.1:n.836+37C>T
NM_015717.5:c.836+37C>T MANE Select	NP_056532.4:n.836+37C>T