Canonical Allele Identifier: CA561144714

Gene: MEF2C-AS2

Linked Data

• dbSNP Id: rs454214
• gnomAD v2: 5-88003403-C-A
• gnomAD v3: 5-88707586-C-A
• gnomAD v4: 5-88707586-C-A
• MyVariant Identifiers: chr5:g.88003403C>A (hg19) ; chr5:g.88707586C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.88707586C>A , CM000667.2:g.88707586C>A	GRCh38
NC_000005.9:g.88003403C>A , CM000667.1:g.88003403C>A	GRCh37
NC_000005.8:g.88039159C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
NR_146284.1:n.180+1930C>A