Canonical Allele Identifier: CA16042682
Gene: TSPAN12 HGNC NCBI

Linked Data

ClinVar Variation Id: 373552
ClinVar RCV Id: RCV000413300 RCV001253220
dbSNP Id: rs1057518477
gnomAD v4: 7-120840111-T-C
MyVariant Identifiers: chr7:g.120480165T>C (hg19) chr7:g.120840111T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.120840111T>C , CM000669.2:g.120840111T>C GRCh38
NC_000007.13:g.120480165T>C , CM000669.1:g.120480165T>C GRCh37
NC_000007.12:g.120267401T>C NCBI36
NG_023203.1:g.23013A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000222747.8:c.67-2A>G MANE Select ENSP00000222747.3:n.67-2A>G
ENST00000222747.7:c.67-2A>G ENSP00000222747.3:n.67-2A>G
ENST00000415871.5:c.67-2A>G ENSP00000397699.1:n.67-2A>G
ENST00000424710.5:c.67-2A>G ENSP00000404942.1:n.67-2A>G
ENST00000430985.1:c.67-2A>G ENSP00000388819.1:n.67-2A>G
ENST00000433758.5:c.67-2A>G ENSP00000399059.1:n.67-2A>G
ENST00000441017.5:c.67-2A>G ENSP00000411158.1:n.67-2A>G
NM_012338.3:c.67-2A>G NP_036470.1:n.67-2A>G
XM_005250239.1:c.67-2A>G XP_005250296.1:n.67-2A>G
XM_011515993.1:c.67-2A>G XP_011514295.1:n.67-2A>G
XM_011515994.1:c.67-2A>G XP_011514296.1:n.67-2A>G
XM_005250239.3:c.67-2A>G XP_005250296.1:n.67-2A>G
XM_017011913.1:c.67-2A>G XP_016867402.1:n.67-2A>G
NM_012338.4:c.67-2A>G MANE Select NP_036470.1:n.67-2A>G
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