Canonical Allele Identifier: CA6463148

Gene: GUCY2C C12orf60

Linked Data

• ClinVar Variation Id: 402915
• ClinVar RCV Id: RCV000455438 ; RCV001522853 ; RCV001703170 ; RCV001703169
• dbSNP Id: rs3217210
• ExAC: 12:14781678 G / GA
• gnomAD v2: 12-14781678-G-GA
• gnomAD v3: 12-14628744-G-GA
• gnomAD v4: 12-14628744-G-GA
• MyVariant Identifiers: chr12:g.14781679dupA (hg19) ; chr12:g.14781687_14781688insA (hg19) ; chr12:g.14781679_14781680insA (hg19) ; chr12:g.14781678_14781679insA (hg19) ; chr12:g.14628745dupA (hg38) ; chr12:g.14628753_14628754insA (hg38) ; chr12:g.14628745_14628746insA (hg38) ; chr12:g.14628744_14628745insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.14628753dup , CM000674.2:g.14628753dup	GRCh38
NC_000012.11:g.14781687dup , CM000674.1:g.14781687dup	GRCh37
NC_000012.10:g.14672954dup	NCBI36
NG_052021.1:g.72841dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261170.5:c.2158-8dup (GUCY2C) MANE Select	ENSP00000261170.3:n.2158-8dup
ENST00000261170.4:c.2158-8dup (GUCY2C)	ENSP00000261170.3:n.2158-8dup
NM_004963.3:c.2158-8dup (GUCY2C)	NP_004954.2:n.2158-8dup
XM_011520631.1:c.1912-8dup (GUCY2C)	XP_011518933.1:n.1912-8dup
XM_011520631.2:c.1912-8dup (GUCY2C)	XP_011518933.1:n.1912-8dup
XR_001748595.1:n.700+8837dup (C12orf60)
XR_001748596.1:n.700+8837dup (C12orf60)
XR_001748597.1:n.700+8837dup (C12orf60)
XR_001748598.2:n.700+8837dup (C12orf60)
XR_001748599.1:n.700+8837dup (C12orf60)
NM_004963.4:c.2158-8dup (GUCY2C) MANE Select	NP_004954.2:n.2158-8dup