Canonical Allele Identifier: CA3429905

Gene: REEP2

Linked Data

• ClinVar Variation Id: 2040390
• ClinVar RCV Id: RCV002886401
• dbSNP Id: rs370261132
• ExAC: 5:137781361 T / C
• gnomAD v2: 5-137781361-T-C
• gnomAD v3: 5-138445672-T-C
• gnomAD v4: 5-138445672-T-C
• MyVariant Identifiers: chr5:g.137781361T>C (hg19) ; chr5:g.138445672T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.138445672T>C , CM000667.2:g.138445672T>C	GRCh38
NC_000005.9:g.137781361T>C , CM000667.1:g.137781361T>C	GRCh37
NC_000005.8:g.137809260T>C	NCBI36
NG_033967.1:g.11672T>C
NG_033967.2:g.11672T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378339.7:c.697-11T>C MANE Select	ENSP00000367590.2:n.697-11T>C
ENST00000254901.9:c.691-11T>C	ENSP00000254901.5:n.691-11T>C
ENST00000378339.6:c.697-11T>C	ENSP00000367590.2:n.697-11T>C
ENST00000504163.1:n.510-11T>C
ENST00000506158.5:c.577-11T>C	ENSP00000422530.1:n.577-11T>C
ENST00000507635.5:n.602-11T>C
ENST00000613650.1:c.*125-11T>C	ENSP00000479268.1:n.*125-11T>C
NM_001271803.1:c.697-11T>C	NP_001258732.1:n.697-11T>C
NM_016606.3:c.691-11T>C	NP_057690.2:n.691-11T>C
NR_073448.1:n.974-11T>C
NR_073449.1:n.980-11T>C
NM_001271803.2:c.697-11T>C MANE Select	NP_001258732.1:n.697-11T>C
NM_016606.4:c.691-11T>C	NP_057690.2:n.691-11T>C
NR_073448.2:n.918-11T>C
NR_073449.2:n.924-11T>C