Canonical Allele Identifier: CA122606503

Gene: MEF2C-AS2

Linked Data

• dbSNP Id: rs539113274
• gnomAD v3: 5-88707647-TG-T
• gnomAD v4: 5-88707647-TG-T
• MyVariant Identifiers: chr5:g.88003465del (hg19) ; chr5:g.88707648del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.88707649del , CM000667.2:g.88707649del	GRCh38
NC_000005.9:g.88003466del , CM000667.1:g.88003466del	GRCh37
NC_000005.8:g.88039222del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
NR_146284.1:n.180+1993del