Canonical Allele Identifier: CA10614572

Gene: REEP1

Linked Data

• ClinVar Variation Id: 337343
• ClinVar RCV Id: RCV000329599 ; RCV001558480
• dbSNP Id: rs17438464
• gnomAD v2: 2-86441167-A-G
• gnomAD v3: 2-86214044-A-G
• gnomAD v4: 2-86214044-A-G
• MyVariant Identifiers: chr2:g.86441167A>G (hg19) ; chr2:g.86214044A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.86214044A>G , CM000664.2:g.86214044A>G	GRCh38
NC_000002.11:g.86441167A>G , CM000664.1:g.86441167A>G	GRCh37
NC_000002.10:g.86294678A>G	NCBI36
NG_013037.1:g.129040T>C , LRG_713:g.129040T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000538924.7:c.*2995T>C MANE Select	ENSP00000438346.3:n.*2995T>C
ENST00000165698.9:c.*3056T>C	ENSP00000165698.5:n.*3056T>C
ENST00000535845.5:c.*3056T>C	ENSP00000437567.1:n.*3056T>C
ENST00000538924.5:c.*3056T>C	ENSP00000438346.1:n.*3056T>C
ENST00000541910.5:c.*2995T>C	ENSP00000442681.1:n.*2995T>C
NM_001164730.1:c.*3056T>C , LRG_713t1:c.*3056T>C	NP_001158202.1:n.*3056T>C
NM_001164731.1:c.*3056T>C	NP_001158203.1:n.*3056T>C
NM_001164732.1:c.*2995T>C	NP_001158204.1:n.*2995T>C
NM_022912.2:c.*3056T>C , LRG_713t2:c.*3056T>C	NP_075063.1:n.*3056T>C
XM_005264502.1:c.*2995T>C	XP_005264559.1:n.*2995T>C
XM_005264504.1:c.*2995T>C	XP_005264561.1:n.*2995T>C
XM_011533043.1:c.*2995T>C	XP_011531345.1:n.*2995T>C
XM_011533044.1:c.*2995T>C	XP_011531346.1:n.*2995T>C
XM_011533045.1:c.*2995T>C	XP_011531347.1:n.*2995T>C
XM_005264502.2:c.*2995T>C	XP_005264559.1:n.*2995T>C
XM_011533045.2:c.*2995T>C	XP_011531347.1:n.*2995T>C
XM_017004725.1:c.*2995T>C	XP_016860214.1:n.*2995T>C
XM_017004727.1:c.*3056T>C	XP_016860216.1:n.*3056T>C
NM_001164730.2:c.*3056T>C	NP_001158202.1:n.*3056T>C
NM_001164731.2:c.*3056T>C	NP_001158203.1:n.*3056T>C
NM_001164732.2:c.*2995T>C	NP_001158204.1:n.*2995T>C
NM_001371279.1:c.*2995T>C MANE Select	NP_001358208.1:n.*2995T>C
NM_001371280.1:c.*2995T>C	NP_001358209.1:n.*2995T>C
NM_022912.3:c.*3056T>C	NP_075063.1:n.*3056T>C