Canonical Allele Identifier: CA11990036

Gene: NSG2

Linked Data

• dbSNP Id: rs10475598
• gnomAD v2: 5-173648438-T-C
• gnomAD v3: 5-174221435-T-C
• gnomAD v4: 5-174221435-T-C
• MyVariant Identifiers: chr5:g.173648438T>C (hg19) ; chr5:g.174221435T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.174221435T>C , CM000667.2:g.174221435T>C	GRCh38
NC_000005.9:g.173648438T>C , CM000667.1:g.173648438T>C	GRCh37
NC_000005.8:g.173581044T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000521585.5:c.*18+16131T>C	ENSP00000429863.1:n.*18+16131T>C