Canonical Allele Identifier: CA690314582

Gene: AGAP2 TSPAN31

Linked Data

• dbSNP Id: rs1258279484
• gnomAD v3: 12-57739546-C-T
• gnomAD v4: 12-57739546-C-T
• MyVariant Identifiers: chr12:g.58133329C>T (hg19) ; chr12:g.57739546C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57739546C>T , CM000674.2:g.57739546C>T	GRCh38
NC_000012.11:g.58133329C>T , CM000674.1:g.58133329C>T	GRCh37
NC_000012.10:g.56419596C>T	NCBI36
NG_029755.1:g.7616G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000257897.7:c.160+2366G>A (AGAP2)	ENSP00000257897.3:n.160+2366G>A
ENST00000553221.5:n.189+1345C>T (TSPAN31)
NM_014770.3:c.160+2366G>A (AGAP2)	NP_055585.1:n.160+2366G>A
XM_005268626.1:c.160+2366G>A (AGAP2)	XP_005268683.1:n.160+2366G>A
XM_005268626.2:c.160+2366G>A (AGAP2)	XP_005268683.1:n.160+2366G>A
NM_014770.4:c.160+2366G>A (AGAP2)	NP_055585.1:n.160+2366G>A