Canonical Allele Identifier: CA237835730
Gene: AGAP2 HGNC NCBI
TSPAN31 HGNC NCBI

Linked Data

dbSNP Id: rs775247934
MyVariant Identifiers: chr12:g.58133253A>G (hg19) chr12:g.57739470A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57739470A>G , CM000674.2:g.57739470A>G GRCh38
NC_000012.11:g.58133253A>G , CM000674.1:g.58133253A>G GRCh37
NC_000012.10:g.56419520A>G NCBI36
NG_029755.1:g.7692T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000257897.7:c.160+2442T>C (AGAP2) ENSP00000257897.3:n.160+2442T>C
ENST00000553221.5:n.189+1269A>G (TSPAN31)
NM_014770.3:c.160+2442T>C (AGAP2) NP_055585.1:n.160+2442T>C
XM_005268626.1:c.160+2442T>C (AGAP2) XP_005268683.1:n.160+2442T>C
XM_005268626.2:c.160+2442T>C (AGAP2) XP_005268683.1:n.160+2442T>C
NM_014770.4:c.160+2442T>C (AGAP2) NP_055585.1:n.160+2442T>C
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