Canonical Allele Identifier: CA2796144002
Gene: AGAP2 HGNC NCBI
TSPAN31 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57739402G>T , CM000674.2:g.57739402G>T GRCh38
NC_000012.11:g.58133185G>T , CM000674.1:g.58133185G>T GRCh37
NC_000012.10:g.56419452G>T NCBI36
NG_029755.1:g.7760C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000257897.7:c.160+2510C>A (AGAP2) ENSP00000257897.3:n.160+2510C>A
ENST00000553221.5:n.189+1201G>T (TSPAN31)
NM_014770.3:c.160+2510C>A (AGAP2) NP_055585.1:n.160+2510C>A
XM_005268626.1:c.160+2510C>A (AGAP2) XP_005268683.1:n.160+2510C>A
XM_005268626.2:c.160+2510C>A (AGAP2) XP_005268683.1:n.160+2510C>A
NM_014770.4:c.160+2510C>A (AGAP2) NP_055585.1:n.160+2510C>A