Canonical Allele Identifier: CA351019109

Gene: GIGYF2

Linked Data

• dbSNP Id: rs1488057711
• gnomAD v3: 2-232809808-T-C
• gnomAD v4: 2-232809808-T-C
• MyVariant Identifiers: chr2:g.233674518T>C (hg19) ; chr2:g.232809808T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232809808T>C , CM000664.2:g.232809808T>C	GRCh38
NC_000002.11:g.233674518T>C , CM000664.1:g.233674518T>C	GRCh37
NC_000002.10:g.233382762T>C	NCBI36
NG_011847.1:g.117504T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373563.9:c.1895T>C MANE Select	ENSP00000362664.5:p.Ile632Thr
ENST00000676848.1:c.1241T>C	ENSP00000503313.1:p.Ile414Thr
ENST00000677450.1:c.1376T>C	ENSP00000503420.1:p.Ile459Thr
ENST00000677591.1:c.1151T>C	ENSP00000503061.1:p.Ile384Thr
ENST00000678230.1:c.1388T>C	ENSP00000504272.1:p.Ile463Thr
ENST00000678339.1:c.1151T>C	ENSP00000503437.1:p.Ile384Thr
ENST00000678466.1:c.1151T>C	ENSP00000504219.1:p.Ile384Thr
ENST00000678885.1:c.1151T>C	ENSP00000503563.1:p.Ile384Thr
ENST00000373563.8:c.1895T>C	ENSP00000362664.4:p.Ile632Thr
ENST00000409196.7:c.1877T>C	ENSP00000387070.3:p.Ile626Thr
ENST00000409451.7:c.1958T>C	ENSP00000387170.3:p.Ile653Thr
ENST00000409480.5:c.1961T>C	ENSP00000386765.1:p.Ile654Thr
ENST00000409547.5:c.1895T>C	ENSP00000386537.1:p.Ile632Thr
ENST00000423659.5:c.1724T>C	ENSP00000404195.1:p.Ile575Thr
ENST00000440945.5:c.1877T>C	ENSP00000410297.1:p.Ile626Thr
ENST00000482952.5:n.133T>C
ENST00000629305.2:c.1961T>C	ENSP00000487548.1:p.Ile654Thr
NM_001103146.1:c.1895T>C	NP_001096616.1:p.Ile632Thr
NM_001103147.1:c.1958T>C	NP_001096617.1:p.Ile653Thr
NM_001103148.1:c.1877T>C	NP_001096618.1:p.Ile626Thr
NM_015575.3:c.1895T>C	NP_056390.2:p.Ile632Thr
NR_103492.1:n.2008T>C
NM_001103146.3:c.1895T>C MANE Select	NP_001096616.1:p.Ile632Thr
NM_001103147.2:c.1958T>C	NP_001096617.1:p.Ile653Thr
NM_001103148.2:c.1877T>C	NP_001096618.1:p.Ile626Thr
NM_015575.4:c.1895T>C	NP_056390.2:p.Ile632Thr