Canonical Allele Identifier: CA2039025048
Gene: AGAP2 HGNC NCBI
TSPAN31 HGNC NCBI

Linked Data

dbSNP Id: rs1955051876

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57739552C>G , CM000674.2:g.57739552C>G GRCh38
NC_000012.11:g.58133335C>G , CM000674.1:g.58133335C>G GRCh37
NC_000012.10:g.56419602C>G NCBI36
NG_029755.1:g.7610G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000257897.7:c.160+2360G>C (AGAP2) ENSP00000257897.3:n.160+2360G>C
ENST00000553221.5:n.189+1351C>G (TSPAN31)
NM_014770.3:c.160+2360G>C (AGAP2) NP_055585.1:n.160+2360G>C
XM_005268626.1:c.160+2360G>C (AGAP2) XP_005268683.1:n.160+2360G>C
XM_005268626.2:c.160+2360G>C (AGAP2) XP_005268683.1:n.160+2360G>C
NM_014770.4:c.160+2360G>C (AGAP2) NP_055585.1:n.160+2360G>C