Linked Data
ClinVar Variation Id:
31605
ClinVar RCV Id:
RCV000024309
dbSNP Id:
rs730880325
gnomAD v3:
12-14625894-A-AT
gnomAD v4:
12-14625894-A-AT
MyVariant Identifiers:
chr12:g.14778829dupT (hg19)
chr12:g.14778828_14778829insT (hg19)
chr12:g.14625895dupT (hg38)
chr12:g.14625894_14625895insT (hg38)
PubMed:
PMID:22521417
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.14625901dup , CM000674.2:g.14625901dup | GRCh38 |
| NC_000012.11:g.14778835dup , CM000674.1:g.14778835dup | GRCh37 |
| NC_000012.10:g.14670102dup | NCBI36 |
| NG_052021.1:g.75691dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261170.5:c.2270dup (GUCY2C) MANE Select | ENSP00000261170.3:p.Asn757LysfsTer2 | |
| ENST00000261170.4:c.2270dup (GUCY2C) | ENSP00000261170.3:p.Asn757LysfsTer2 | |
| NM_004963.3:c.2270dup (GUCY2C) | NP_004954.2:p.Asn757LysfsTer2 | |
| XM_011520631.1:c.2024dup (GUCY2C) | XP_011518933.1:p.Asn675LysfsTer2 | |
| XM_011520631.2:c.2024dup (GUCY2C) | XP_011518933.1:p.Asn675LysfsTer2 | |
| XR_001748595.1:n.700+5985dup (C12orf60) | ||
| XR_001748596.1:n.700+5985dup (C12orf60) | ||
| XR_001748597.1:n.700+5985dup (C12orf60) | ||
| XR_001748598.2:n.700+5985dup (C12orf60) | ||
| XR_001748599.1:n.700+5985dup (C12orf60) | ||
| NM_004963.4:c.2270dup (GUCY2C) MANE Select | NP_004954.2:p.Asn757LysfsTer2 |