Canonical Allele Identifier: CA347486977

Gene: GGCX

Linked Data

• ClinVar Variation Id: 1924431
• ClinVar RCV Id: RCV002613775
• dbSNP Id: rs1242455251
• gnomAD v3: 2-85553012-G-A
• gnomAD v4: 2-85553012-G-A
• MyVariant Identifiers: chr2:g.85780135G>A (hg19) ; chr2:g.85553012G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85553012G>A , CM000664.2:g.85553012G>A	GRCh38
NC_000002.11:g.85780135G>A , CM000664.1:g.85780135G>A	GRCh37
NC_000002.10:g.85633646G>A	NCBI36
NG_011811.2:g.13523C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000473665.2:n.5258C>T
ENST00000482662.2:n.3665C>T
ENST00000685865.1:n.1617C>T
ENST00000687250.1:n.1317C>T
ENST00000687995.1:n.1566C>T
ENST00000688205.1:c.*807C>T	ENSP00000509673.1:n.*807C>T
ENST00000688788.1:n.1453C>T
ENST00000689276.1:c.1145C>T	ENSP00000510012.1:p.Ser382Phe
ENST00000689576.1:c.1214C>T	ENSP00000508712.1:p.Ser405Phe
ENST00000690108.1:c.*870C>T	ENSP00000510617.1:n.*870C>T
ENST00000690468.1:c.935C>T	ENSP00000509078.1:p.Ser312Phe
ENST00000690595.1:c.539C>T	ENSP00000508979.1:p.Ser180Phe
ENST00000691348.1:c.1043C>T	ENSP00000509369.1:p.Ser348Phe
ENST00000691410.1:c.*791C>T	ENSP00000508479.1:n.*791C>T
ENST00000693287.1:c.530C>T	ENSP00000510264.1:p.Ser177Phe
ENST00000693681.1:c.527C>T	ENSP00000510789.1:p.Ser176Phe
ENST00000233838.9:c.1214C>T MANE Select	ENSP00000233838.3:p.Ser405Phe
ENST00000233838.8:c.1214C>T	ENSP00000233838.3:p.Ser405Phe
ENST00000430215.7:c.1043C>T	ENSP00000408045.3:p.Ser348Phe
ENST00000465637.5:n.179-5008C>T
ENST00000473665.1:n.707C>T
ENST00000482662.1:n.631C>T
NM_000821.5:c.1214C>T	NP_000812.2:p.Ser405Phe
NM_000821.6:c.1214C>T	NP_000812.2:p.Ser405Phe
NM_001142269.2:c.1043C>T	NP_001135741.1:p.Ser348Phe
NM_001142269.3:c.1043C>T	NP_001135741.1:p.Ser348Phe
XM_005264259.3:c.1214C>T	XP_005264316.1:p.Ser405Phe
XM_011532764.1:c.392C>T	XP_011531066.1:p.Ser131Phe
XM_011532765.1:c.392C>T	XP_011531067.1:p.Ser131Phe
XR_939677.1:n.1279C>T
XM_005264259.5:c.1214C>T	XP_005264316.1:p.Ser405Phe
XM_011532764.3:c.392C>T	XP_011531066.1:p.Ser131Phe
XM_011532765.3:c.392C>T	XP_011531067.1:p.Ser131Phe
XM_017003803.2:c.1043C>T	XP_016859292.1:p.Ser348Phe
XR_001738703.2:n.1279C>T
NM_000821.7:c.1214C>T MANE Select	NP_000812.2:p.Ser405Phe
NM_001142269.4:c.1043C>T	NP_001135741.1:p.Ser348Phe