Canonical Allele Identifier: CA237835699

Gene: AGAP2 TSPAN31

Linked Data

• dbSNP Id: rs985240962
• gnomAD v3: 12-57739365-C-G
• gnomAD v4: 12-57739365-C-G
• MyVariant Identifiers: chr12:g.58133148C>G (hg19) ; chr12:g.57739365C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57739365C>G , CM000674.2:g.57739365C>G	GRCh38
NC_000012.11:g.58133148C>G , CM000674.1:g.58133148C>G	GRCh37
NC_000012.10:g.56419415C>G	NCBI36
NG_029755.1:g.7797G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257897.7:c.160+2547G>C (AGAP2)	ENSP00000257897.3:n.160+2547G>C
ENST00000553221.5:n.189+1164C>G (TSPAN31)
NM_014770.3:c.160+2547G>C (AGAP2)	NP_055585.1:n.160+2547G>C
XM_005268626.1:c.160+2547G>C (AGAP2)	XP_005268683.1:n.160+2547G>C
XM_005268626.2:c.160+2547G>C (AGAP2)	XP_005268683.1:n.160+2547G>C
NM_014770.4:c.160+2547G>C (AGAP2)	NP_055585.1:n.160+2547G>C