Canonical Allele Identifier: CA351010808

Gene: GIGYF2

Linked Data

• dbSNP Id: rs1700043777
• MyVariant Identifiers: chr2:g.233655429G>C (hg19) ; chr2:g.232790719G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232790719G>C , CM000664.2:g.232790719G>C	GRCh38
NC_000002.11:g.233655429G>C , CM000664.1:g.233655429G>C	GRCh37
NC_000002.10:g.233363673G>C	NCBI36
NG_011847.1:g.98415G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000373563.9:c.734G>C MANE Select	ENSP00000362664.5:p.Trp245Ser
ENST00000676848.1:c.80G>C	ENSP00000503313.1:p.Trp27Ser
ENST00000677450.1:c.215G>C	ENSP00000503420.1:p.Trp72Ser
ENST00000677591.1:c.-11G>C	ENSP00000503061.1:n.-11G>C
ENST00000678230.1:c.227G>C	ENSP00000504272.1:p.Trp76Ser
ENST00000678339.1:c.-11G>C	ENSP00000503437.1:n.-11G>C
ENST00000678466.1:c.-11G>C	ENSP00000504219.1:n.-11G>C
ENST00000678885.1:c.-11G>C	ENSP00000503563.1:n.-11G>C
ENST00000373563.8:c.734G>C	ENSP00000362664.4:p.Trp245Ser
ENST00000409196.7:c.716G>C	ENSP00000387070.3:p.Trp239Ser
ENST00000409451.7:c.800G>C	ENSP00000387170.3:p.Trp267Ser
ENST00000409480.5:c.800G>C	ENSP00000386765.1:p.Trp267Ser
ENST00000409547.5:c.734G>C	ENSP00000386537.1:p.Trp245Ser
ENST00000410033.1:c.80G>C	ENSP00000387276.1:p.Trp27Ser
ENST00000421778.1:c.215G>C	ENSP00000390325.1:p.Trp72Ser
ENST00000423659.5:c.563G>C	ENSP00000404195.1:p.Trp188Ser
ENST00000424414.6:c.-11G>C	ENSP00000401261.2:n.-11G>C
ENST00000427649.5:c.-11G>C	ENSP00000398055.1:n.-11G>C
ENST00000436349.5:c.-11G>C	ENSP00000400076.1:n.-11G>C
ENST00000440945.5:c.716G>C	ENSP00000410297.1:p.Trp239Ser
ENST00000445650.5:c.227G>C	ENSP00000392218.1:p.Trp76Ser
ENST00000455139.5:c.-11G>C	ENSP00000395299.1:n.-11G>C
ENST00000458528.1:c.80G>C	ENSP00000389322.1:p.Trp27Ser
ENST00000629305.2:c.800G>C	ENSP00000487548.1:p.Trp267Ser
NM_001103146.1:c.734G>C	NP_001096616.1:p.Trp245Ser
NM_001103147.1:c.800G>C	NP_001096617.1:p.Trp267Ser
NM_001103148.1:c.716G>C	NP_001096618.1:p.Trp239Ser
NM_015575.3:c.734G>C	NP_056390.2:p.Trp245Ser
NR_103492.1:n.847G>C
NM_001103146.3:c.734G>C MANE Select	NP_001096616.1:p.Trp245Ser
NM_001103147.2:c.800G>C	NP_001096617.1:p.Trp267Ser
NM_001103148.2:c.716G>C	NP_001096618.1:p.Trp239Ser
NM_015575.4:c.734G>C	NP_056390.2:p.Trp245Ser