Canonical Allele Identifier: CA174001
Gene: GUCY2C HGNC NCBI
C12orf60 HGNC NCBI

Linked Data

ClinVar Variation Id: 161158
ClinVar RCV Id: RCV000148339
dbSNP Id: rs587784572
ExAC: 12:14794076 C / T
gnomAD v2: 12-14794076-C-T
gnomAD v3: 12-14641142-C-T
gnomAD v4: 12-14641142-C-T
COSMIC: COSM275408
MyVariant Identifiers: chr12:g.14794076C>T (hg19) chr12:g.14641142C>T (hg38)
PubMed: PMID:25370039
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.14641142C>T , CM000674.2:g.14641142C>T GRCh38
NC_000012.11:g.14794076C>T , CM000674.1:g.14794076C>T GRCh37
NC_000012.10:g.14685343C>T NCBI36
NG_052021.1:g.60444G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000261170.5:c.2008G>A (GUCY2C) MANE Select ENSP00000261170.3:p.Ala670Thr
ENST00000261170.4:c.2008G>A (GUCY2C) ENSP00000261170.3:p.Ala670Thr
NM_004963.3:c.2008G>A (GUCY2C) NP_004954.2:p.Ala670Thr
XM_011520631.1:c.1762G>A (GUCY2C) XP_011518933.1:p.Ala588Thr
XM_011520631.2:c.1762G>A (GUCY2C) XP_011518933.1:p.Ala588Thr
XR_001748595.1:n.700+21226C>T (C12orf60)
XR_001748596.1:n.700+21226C>T (C12orf60)
XR_001748597.1:n.700+21226C>T (C12orf60)
XR_001748598.2:n.701-19722C>T (C12orf60)
XR_001748599.1:n.701-9789C>T (C12orf60)
NM_004963.4:c.2008G>A (GUCY2C) MANE Select NP_004954.2:p.Ala670Thr
Search 100 bp 5'
Search 100 bp 3'