Canonical Allele Identifier: CA351014048

Gene: GIGYF2

Linked Data

• MyVariant Identifiers: chr2:g.233656138G>C (hg19) ; chr2:g.232791428G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232791428G>C , CM000664.2:g.232791428G>C	GRCh38
NC_000002.11:g.233656138G>C , CM000664.1:g.233656138G>C	GRCh37
NC_000002.10:g.233364382G>C	NCBI36
NG_011847.1:g.99124G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373563.9:c.1264G>C MANE Select	ENSP00000362664.5:p.Val422Leu
ENST00000676848.1:c.610G>C	ENSP00000503313.1:p.Val204Leu
ENST00000677450.1:c.745G>C	ENSP00000503420.1:p.Val249Leu
ENST00000677591.1:c.520G>C	ENSP00000503061.1:p.Val174Leu
ENST00000678230.1:c.757G>C	ENSP00000504272.1:p.Val253Leu
ENST00000678339.1:c.520G>C	ENSP00000503437.1:p.Val174Leu
ENST00000678466.1:c.520G>C	ENSP00000504219.1:p.Val174Leu
ENST00000678885.1:c.520G>C	ENSP00000503563.1:p.Val174Leu
ENST00000373563.8:c.1264G>C	ENSP00000362664.4:p.Val422Leu
ENST00000409196.7:c.1246G>C	ENSP00000387070.3:p.Val416Leu
ENST00000409451.7:c.1327G>C	ENSP00000387170.3:p.Val443Leu
ENST00000409480.5:c.1330G>C	ENSP00000386765.1:p.Val444Leu
ENST00000409547.5:c.1264G>C	ENSP00000386537.1:p.Val422Leu
ENST00000423659.5:c.1093G>C	ENSP00000404195.1:p.Val365Leu
ENST00000440945.5:c.1246G>C	ENSP00000410297.1:p.Val416Leu
ENST00000458528.1:c.*257G>C	ENSP00000389322.1:n.*257G>C
ENST00000629305.2:c.1330G>C	ENSP00000487548.1:p.Val444Leu
NM_001103146.1:c.1264G>C	NP_001096616.1:p.Val422Leu
NM_001103147.1:c.1327G>C	NP_001096617.1:p.Val443Leu
NM_001103148.1:c.1246G>C	NP_001096618.1:p.Val416Leu
NM_015575.3:c.1264G>C	NP_056390.2:p.Val422Leu
NR_103492.1:n.1377G>C
NM_001103146.3:c.1264G>C MANE Select	NP_001096616.1:p.Val422Leu
NM_001103147.2:c.1327G>C	NP_001096617.1:p.Val443Leu
NM_001103148.2:c.1246G>C	NP_001096618.1:p.Val416Leu
NM_015575.4:c.1264G>C	NP_056390.2:p.Val422Leu