Canonical Allele Identifier: CA351018879

Gene: GIGYF2

Linked Data

• gnomAD v4: 2-232809760-T-C
• MyVariant Identifiers: chr2:g.233674470T>C (hg19) ; chr2:g.232809760T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.232809760T>C , CM000664.2:g.232809760T>C	GRCh38
NC_000002.11:g.233674470T>C , CM000664.1:g.233674470T>C	GRCh37
NC_000002.10:g.233382714T>C	NCBI36
NG_011847.1:g.117456T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373563.9:c.1847T>C MANE Select	ENSP00000362664.5:p.Leu616Pro
ENST00000676848.1:c.1193T>C	ENSP00000503313.1:p.Leu398Pro
ENST00000677450.1:c.1328T>C	ENSP00000503420.1:p.Leu443Pro
ENST00000677591.1:c.1103T>C	ENSP00000503061.1:p.Leu368Pro
ENST00000678230.1:c.1340T>C	ENSP00000504272.1:p.Leu447Pro
ENST00000678339.1:c.1103T>C	ENSP00000503437.1:p.Leu368Pro
ENST00000678466.1:c.1103T>C	ENSP00000504219.1:p.Leu368Pro
ENST00000678885.1:c.1103T>C	ENSP00000503563.1:p.Leu368Pro
ENST00000373563.8:c.1847T>C	ENSP00000362664.4:p.Leu616Pro
ENST00000409196.7:c.1829T>C	ENSP00000387070.3:p.Leu610Pro
ENST00000409451.7:c.1910T>C	ENSP00000387170.3:p.Leu637Pro
ENST00000409480.5:c.1913T>C	ENSP00000386765.1:p.Leu638Pro
ENST00000409547.5:c.1847T>C	ENSP00000386537.1:p.Leu616Pro
ENST00000423659.5:c.1676T>C	ENSP00000404195.1:p.Leu559Pro
ENST00000440945.5:c.1829T>C	ENSP00000410297.1:p.Leu610Pro
ENST00000482952.5:n.85T>C
ENST00000629305.2:c.1913T>C	ENSP00000487548.1:p.Leu638Pro
NM_001103146.1:c.1847T>C	NP_001096616.1:p.Leu616Pro
NM_001103147.1:c.1910T>C	NP_001096617.1:p.Leu637Pro
NM_001103148.1:c.1829T>C	NP_001096618.1:p.Leu610Pro
NM_015575.3:c.1847T>C	NP_056390.2:p.Leu616Pro
NR_103492.1:n.1960T>C
NM_001103146.3:c.1847T>C MANE Select	NP_001096616.1:p.Leu616Pro
NM_001103147.2:c.1910T>C	NP_001096617.1:p.Leu637Pro
NM_001103148.2:c.1829T>C	NP_001096618.1:p.Leu610Pro
NM_015575.4:c.1847T>C	NP_056390.2:p.Leu616Pro