Canonical Allele Identifier: CA122606497
Gene: MEF2C-AS2 HGNC NCBI

Linked Data

dbSNP Id: rs912927842
gnomAD v2: 5-88003404-G-A
gnomAD v3: 5-88707587-G-A
gnomAD v4: 5-88707587-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.88707587G>A , CM000667.2:g.88707587G>A GRCh38
NC_000005.9:g.88003404G>A , CM000667.1:g.88003404G>A GRCh37
NC_000005.8:g.88039160G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
NR_146284.1:n.180+1931G>A