Canonical Allele Identifier: CA1741917

Gene: GGCX

Linked Data

• dbSNP Id: rs748231351
• ExAC: 2:85780356 T / A
• gnomAD v2: 2-85780356-T-A
• MyVariant Identifiers: chr2:g.85780356T>A (hg19) ; chr2:g.85553233T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85553233T>A , CM000664.2:g.85553233T>A	GRCh38
NC_000002.11:g.85780356T>A , CM000664.1:g.85780356T>A	GRCh37
NC_000002.10:g.85633867T>A	NCBI36
NG_011811.2:g.13302A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000473665.2:n.5198A>T
ENST00000482662.2:n.3605A>T
ENST00000685865.1:n.1557A>T
ENST00000687250.1:n.1257A>T
ENST00000687995.1:n.1506A>T
ENST00000688205.1:c.*747A>T	ENSP00000509673.1:n.*747A>T
ENST00000688788.1:n.1393A>T
ENST00000689276.1:c.1085A>T	ENSP00000510012.1:p.Gln362Leu
ENST00000689576.1:c.1154A>T	ENSP00000508712.1:p.Gln385Leu
ENST00000690108.1:c.*810A>T	ENSP00000510617.1:n.*810A>T
ENST00000690468.1:c.875A>T	ENSP00000509078.1:p.Gln292Leu
ENST00000690595.1:c.479A>T	ENSP00000508979.1:p.Gln160Leu
ENST00000691348.1:c.983A>T	ENSP00000509369.1:p.Gln328Leu
ENST00000691410.1:c.*731A>T	ENSP00000508479.1:n.*731A>T
ENST00000693287.1:c.470A>T	ENSP00000510264.1:p.Gln157Leu
ENST00000693681.1:c.467A>T	ENSP00000510789.1:p.Gln156Leu
ENST00000233838.9:c.1154A>T MANE Select	ENSP00000233838.3:p.Gln385Leu
ENST00000233838.8:c.1154A>T	ENSP00000233838.3:p.Gln385Leu
ENST00000430215.7:c.983A>T	ENSP00000408045.3:p.Gln328Leu
ENST00000465637.5:n.179-5229A>T
ENST00000473665.1:n.647A>T
ENST00000482662.1:n.571A>T
NM_000821.5:c.1154A>T	NP_000812.2:p.Gln385Leu
NM_000821.6:c.1154A>T	NP_000812.2:p.Gln385Leu
NM_001142269.2:c.983A>T	NP_001135741.1:p.Gln328Leu
NM_001142269.3:c.983A>T	NP_001135741.1:p.Gln328Leu
XM_005264259.3:c.1154A>T	XP_005264316.1:p.Gln385Leu
XM_011532764.1:c.332A>T	XP_011531066.1:p.Gln111Leu
XM_011532765.1:c.332A>T	XP_011531067.1:p.Gln111Leu
XR_939677.1:n.1219A>T
XM_005264259.5:c.1154A>T	XP_005264316.1:p.Gln385Leu
XM_011532764.3:c.332A>T	XP_011531066.1:p.Gln111Leu
XM_011532765.3:c.332A>T	XP_011531067.1:p.Gln111Leu
XM_017003803.2:c.983A>T	XP_016859292.1:p.Gln328Leu
XR_001738703.2:n.1219A>T
NM_000821.7:c.1154A>T MANE Select	NP_000812.2:p.Gln385Leu
NM_001142269.4:c.983A>T	NP_001135741.1:p.Gln328Leu