Canonical Allele Identifier: CA638542835

Gene: SNAP29

Linked Data

• dbSNP Id: rs1451394898
• gnomAD v2: 22-21242630-C-G
• gnomAD v3: 22-20888342-C-G
• gnomAD v4: 22-20888342-C-G
• MyVariant Identifiers: chr22:g.21242630C>G (hg19) ; chr22:g.21242630_21242631delinsGA (hg19) ; chr22:g.20888342C>G (hg38) ; chr22:g.20888342_20888343delinsGA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.20888342C>G , CM000684.2:g.20888342C>G	GRCh38
NC_000022.10:g.21242630C>G , CM000684.1:g.21242630C>G	GRCh37
NC_000022.9:g.19572630C>G	NCBI36
NG_012152.1:g.34339C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000215730.12:c.*506C>G MANE Select	ENSP00000215730.6:n.*506C>G
ENST00000215730.11:c.*506C>G	ENSP00000215730.6:n.*506C>G
NM_004782.3:c.*506C>G	NP_004773.1:n.*506C>G
NM_004782.4:c.*506C>G MANE Select	NP_004773.1:n.*506C>G