Canonical Allele Identifier: CA397952642
Gene: GUCY2D HGNC NCBI

Linked Data

dbSNP Id: rs1375409540
gnomAD v2: 17-7915916-G-T
gnomAD v3: 17-8012598-G-T
gnomAD v4: 17-8012598-G-T
MyVariant Identifiers: chr17:g.7915916G>T (hg19) chr17:g.8012598G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8012598G>T , CM000679.2:g.8012598G>T GRCh38
NC_000017.10:g.7915916G>T , CM000679.1:g.7915916G>T GRCh37
NC_000017.9:g.7856641G>T NCBI36
NG_009092.1:g.14929G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000254854.5:c.2105G>T MANE Select ENSP00000254854.4:p.Arg702Ile
ENST00000254854.4:c.2105G>T ENSP00000254854.4:p.Arg702Ile
NM_000180.3:c.2105G>T NP_000171.1:p.Arg702Ile
XM_011523816.1:c.2105G>T XP_011522118.1:p.Arg702Ile
NM_000180.4:c.2105G>T MANE Select NP_000171.1:p.Arg702Ile
Search 100 bp 5'
Search 100 bp 3'