Canonical Allele Identifier: CA237835784

Gene: AGAP2 TSPAN31

Linked Data

• dbSNP Id: rs1032098445
• gnomAD v2: 12-58133372-A-AC
• gnomAD v3: 12-57739589-A-AC
• gnomAD v4: 12-57739589-A-AC
• MyVariant Identifiers: chr12:g.58133373_58133374insC (hg19) ; chr12:g.58133372_58133373insC (hg19) ; chr12:g.57739590_57739591insC (hg38) ; chr12:g.57739589_57739590insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57739596dup , CM000674.2:g.57739596dup	GRCh38
NC_000012.11:g.58133379dup , CM000674.1:g.58133379dup	GRCh37
NC_000012.10:g.56419646dup	NCBI36
NG_029755.1:g.7572dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257897.7:c.160+2322dup (AGAP2)	ENSP00000257897.3:n.160+2322dup
ENST00000553221.5:n.189+1395dup (TSPAN31)
NM_014770.3:c.160+2322dup (AGAP2)	NP_055585.1:n.160+2322dup
XM_005268626.1:c.160+2322dup (AGAP2)	XP_005268683.1:n.160+2322dup
XM_005268626.2:c.160+2322dup (AGAP2)	XP_005268683.1:n.160+2322dup
NM_014770.4:c.160+2322dup (AGAP2)	NP_055585.1:n.160+2322dup