Canonical Allele Identifier: CA2170309

Gene: GIGYF2

Linked Data

• ClinVar Variation Id: 2558194
• ClinVar RCV Id: RCV004329441
• dbSNP Id: rs539250419
• ExAC: 2:233656148 G / C
• gnomAD v2: 2-233656148-G-C
• gnomAD v3: 2-232791438-G-C
• gnomAD v4: 2-232791438-G-C
• MyVariant Identifiers: chr2:g.233656148G>C (hg19) ; chr2:g.232791438G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232791438G>C , CM000664.2:g.232791438G>C	GRCh38
NC_000002.11:g.233656148G>C , CM000664.1:g.233656148G>C	GRCh37
NC_000002.10:g.233364392G>C	NCBI36
NG_011847.1:g.99134G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373563.9:c.1274G>C MANE Select	ENSP00000362664.5:p.Arg425Thr
ENST00000676848.1:c.620G>C	ENSP00000503313.1:p.Arg207Thr
ENST00000677450.1:c.755G>C	ENSP00000503420.1:p.Arg252Thr
ENST00000677591.1:c.530G>C	ENSP00000503061.1:p.Arg177Thr
ENST00000678230.1:c.767G>C	ENSP00000504272.1:p.Arg256Thr
ENST00000678339.1:c.530G>C	ENSP00000503437.1:p.Arg177Thr
ENST00000678466.1:c.530G>C	ENSP00000504219.1:p.Arg177Thr
ENST00000678885.1:c.530G>C	ENSP00000503563.1:p.Arg177Thr
ENST00000373563.8:c.1274G>C	ENSP00000362664.4:p.Arg425Thr
ENST00000409196.7:c.1256G>C	ENSP00000387070.3:p.Arg419Thr
ENST00000409451.7:c.1337G>C	ENSP00000387170.3:p.Arg446Thr
ENST00000409480.5:c.1340G>C	ENSP00000386765.1:p.Arg447Thr
ENST00000409547.5:c.1274G>C	ENSP00000386537.1:p.Arg425Thr
ENST00000423659.5:c.1103G>C	ENSP00000404195.1:p.Arg368Thr
ENST00000440945.5:c.1256G>C	ENSP00000410297.1:p.Arg419Thr
ENST00000458528.1:c.*267G>C	ENSP00000389322.1:n.*267G>C
ENST00000629305.2:c.1340G>C	ENSP00000487548.1:p.Arg447Thr
NM_001103146.1:c.1274G>C	NP_001096616.1:p.Arg425Thr
NM_001103147.1:c.1337G>C	NP_001096617.1:p.Arg446Thr
NM_001103148.1:c.1256G>C	NP_001096618.1:p.Arg419Thr
NM_015575.3:c.1274G>C	NP_056390.2:p.Arg425Thr
NR_103492.1:n.1387G>C
NM_001103146.3:c.1274G>C MANE Select	NP_001096616.1:p.Arg425Thr
NM_001103147.2:c.1337G>C	NP_001096617.1:p.Arg446Thr
NM_001103148.2:c.1256G>C	NP_001096618.1:p.Arg419Thr
NM_015575.4:c.1274G>C	NP_056390.2:p.Arg425Thr