Canonical Allele Identifier: CA948101166

Gene: AGAP2 TSPAN31

Linked Data

• dbSNP Id: rs1955050062
• gnomAD v3: 12-57739451-C-T
• gnomAD v4: 12-57739451-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57739451C>T , CM000674.2:g.57739451C>T	GRCh38
NC_000012.11:g.58133234C>T , CM000674.1:g.58133234C>T	GRCh37
NC_000012.10:g.56419501C>T	NCBI36
NG_029755.1:g.7711G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257897.7:c.160+2461G>A (AGAP2)	ENSP00000257897.3:n.160+2461G>A
ENST00000553221.5:n.189+1250C>T (TSPAN31)
NM_014770.3:c.160+2461G>A (AGAP2)	NP_055585.1:n.160+2461G>A
XM_005268626.1:c.160+2461G>A (AGAP2)	XP_005268683.1:n.160+2461G>A
XM_005268626.2:c.160+2461G>A (AGAP2)	XP_005268683.1:n.160+2461G>A
NM_014770.4:c.160+2461G>A (AGAP2)	NP_055585.1:n.160+2461G>A