Canonical Allele Identifier: CA2039024939
Gene: AGAP2 HGNC NCBI
TSPAN31 HGNC NCBI

Linked Data

dbSNP Id: rs1955050286

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57739463del , CM000674.2:g.57739463del GRCh38
NC_000012.11:g.58133246del , CM000674.1:g.58133246del GRCh37
NC_000012.10:g.56419513del NCBI36
NG_029755.1:g.7702del

Transcript Alleles

HGVS Amino-acid Change
ENST00000257897.7:c.160+2452del (AGAP2) ENSP00000257897.3:n.160+2452del
ENST00000553221.5:n.189+1262del (TSPAN31)
NM_014770.3:c.160+2452del (AGAP2) NP_055585.1:n.160+2452del
XM_005268626.1:c.160+2452del (AGAP2) XP_005268683.1:n.160+2452del
XM_005268626.2:c.160+2452del (AGAP2) XP_005268683.1:n.160+2452del
NM_014770.4:c.160+2452del (AGAP2) NP_055585.1:n.160+2452del