Canonical Allele Identifier: CA132640560

Gene: NSG2

Linked Data

• dbSNP Id: rs533086894
• gnomAD v2: 5-173648582-C-T
• gnomAD v3: 5-174221579-C-T
• gnomAD v4: 5-174221579-C-T
• MyVariant Identifiers: chr5:g.173648582C>T (hg19) ; chr5:g.174221579C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.174221579C>T , CM000667.2:g.174221579C>T	GRCh38
NC_000005.9:g.173648582C>T , CM000667.1:g.173648582C>T	GRCh37
NC_000005.8:g.173581188C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000521585.5:c.*18+16275C>T	ENSP00000429863.1:n.*18+16275C>T