Canonical Allele Identifier: CA605325416

Gene: AGAP2 TSPAN31

Linked Data

• dbSNP Id: rs1415301172
• gnomAD v2: 12-58133204-A-C
• gnomAD v3: 12-57739421-A-C
• gnomAD v4: 12-57739421-A-C
• MyVariant Identifiers: chr12:g.58133204A>C (hg19) ; chr12:g.57739421A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57739421A>C , CM000674.2:g.57739421A>C	GRCh38
NC_000012.11:g.58133204A>C , CM000674.1:g.58133204A>C	GRCh37
NC_000012.10:g.56419471A>C	NCBI36
NG_029755.1:g.7741T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000257897.7:c.160+2491T>G (AGAP2)	ENSP00000257897.3:n.160+2491T>G
ENST00000553221.5:n.189+1220A>C (TSPAN31)
NM_014770.3:c.160+2491T>G (AGAP2)	NP_055585.1:n.160+2491T>G
XM_005268626.1:c.160+2491T>G (AGAP2)	XP_005268683.1:n.160+2491T>G
XM_005268626.2:c.160+2491T>G (AGAP2)	XP_005268683.1:n.160+2491T>G
NM_014770.4:c.160+2491T>G (AGAP2)	NP_055585.1:n.160+2491T>G