Canonical Allele Identifier: CA892614672
Gene: CD207 HGNC NCBI

Linked Data

dbSNP Id: rs1240815833
gnomAD v2: 2-71059097-C-A
gnomAD v3: 2-70831966-C-A
gnomAD v4: 2-70831966-C-A
MyVariant Identifiers: chr2:g.70831966C>A (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.70831966C>A , CM000664.2:g.70831966C>A GRCh38
NC_000002.11:g.71059097C>A , CM000664.1:g.71059097C>A GRCh37
NC_000002.10:g.70912605C>A NCBI36
NG_033914.1:g.8858G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000410009.5:c.718-147G>T MANE Select ENSP00000386378.3:n.718-147G>T
ENST00000410009.4:c.718-147G>T ENSP00000386378.3:n.718-147G>T
NM_015717.4:c.718-147G>T NP_056532.4:n.718-147G>T
XM_011532874.1:c.718-147G>T XP_011531176.1:n.718-147G>T
XM_011532875.1:c.718-147G>T XP_011531177.1:n.718-147G>T
XM_011532876.1:c.718-147G>T XP_011531178.1:n.718-147G>T
XM_011532875.2:c.718-147G>T XP_011531177.1:n.718-147G>T
XM_011532876.2:c.718-147G>T XP_011531178.1:n.718-147G>T
NM_015717.5:c.718-147G>T MANE Select NP_056532.4:n.718-147G>T