Canonical Allele Identifier: CA690314543
Gene: AGAP2 HGNC NCBI
TSPAN31 HGNC NCBI

Linked Data

dbSNP Id: rs12368653
MyVariant Identifiers: chr12:g.58133256G>T (hg19) chr12:g.57739473G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57739473G>T , CM000674.2:g.57739473G>T GRCh38
NC_000012.11:g.58133256G>T , CM000674.1:g.58133256G>T GRCh37
NC_000012.10:g.56419523G>T NCBI36
NG_029755.1:g.7689C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000257897.7:c.160+2439C>A (AGAP2) ENSP00000257897.3:n.160+2439C>A
ENST00000553221.5:n.189+1272G>T (TSPAN31)
NM_014770.3:c.160+2439C>A (AGAP2) NP_055585.1:n.160+2439C>A
XM_005268626.1:c.160+2439C>A (AGAP2) XP_005268683.1:n.160+2439C>A
XM_005268626.2:c.160+2439C>A (AGAP2) XP_005268683.1:n.160+2439C>A
NM_014770.4:c.160+2439C>A (AGAP2) NP_055585.1:n.160+2439C>A
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