Canonical Allele Identifier: CA658657764

Gene: ADGRA2

Linked Data

• ClinVar Variation Id: 487806
• ClinVar RCV Id: RCV000577868
• dbSNP Id: rs1554525957
• MyVariant Identifiers: chr8:g.37691223_37691241del (hg19) ; chr8:g.37833705_37833723del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.37833707_37833725del , CM000670.2:g.37833707_37833725del	GRCh38
NC_000008.10:g.37691225_37691243del , CM000670.1:g.37691225_37691243del	GRCh37
NC_000008.9:g.37810383_37810401del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000412232.3:c.1316_1334del MANE Select	ENSP00000406367.2:p.Asn439ThrfsTer16
ENST00000315215.11:c.1316_1334del	ENSP00000323508.7:p.Asn439ThrfsTer16
ENST00000412232.2:c.1316_1334del	ENSP00000406367.2:p.Asn439ThrfsTer16
NM_032777.9:c.1316_1334del	NP_116166.9:p.Asn439ThrfsTer16
XM_005273471.3:c.1316_1334del	XP_005273528.1:p.Asn439ThrfsTer16
XM_011544481.1:c.1316_1334del	XP_011542783.1:p.Asn439ThrfsTer16
XM_011544482.1:c.1244_1262del	XP_011542784.1:p.Asn415ThrfsTer16
XM_011544483.1:c.1316_1334del	XP_011542785.1:p.Asn439ThrfsTer16
XM_011544481.2:c.1316_1334del	XP_011542783.1:p.Asn439ThrfsTer16
XM_011544482.2:c.1244_1262del	XP_011542784.1:p.Asn415ThrfsTer16
XM_011544483.2:c.1316_1334del	XP_011542785.1:p.Asn439ThrfsTer16
NM_032777.10:c.1316_1334del MANE Select	NP_116166.9:p.Asn439ThrfsTer16