Canonical Allele Identifier: CA347487292

Gene: GGCX

Linked Data

• gnomAD v4: 2-85553237-T-G
• MyVariant Identifiers: chr2:g.85780360T>G (hg19) ; chr2:g.85553237T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85553237T>G , CM000664.2:g.85553237T>G	GRCh38
NC_000002.11:g.85780360T>G , CM000664.1:g.85780360T>G	GRCh37
NC_000002.10:g.85633871T>G	NCBI36
NG_011811.2:g.13298A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000473665.2:n.5194A>C
ENST00000482662.2:n.3601A>C
ENST00000685865.1:n.1553A>C
ENST00000687250.1:n.1253A>C
ENST00000687995.1:n.1502A>C
ENST00000688205.1:c.*743A>C	ENSP00000509673.1:n.*743A>C
ENST00000688788.1:n.1389A>C
ENST00000689276.1:c.1081A>C	ENSP00000510012.1:p.Thr361Pro
ENST00000689576.1:c.1150A>C	ENSP00000508712.1:p.Thr384Pro
ENST00000690108.1:c.*806A>C	ENSP00000510617.1:n.*806A>C
ENST00000690468.1:c.871A>C	ENSP00000509078.1:p.Thr291Pro
ENST00000690595.1:c.475A>C	ENSP00000508979.1:p.Thr159Pro
ENST00000691348.1:c.979A>C	ENSP00000509369.1:p.Thr327Pro
ENST00000691410.1:c.*727A>C	ENSP00000508479.1:n.*727A>C
ENST00000693287.1:c.466A>C	ENSP00000510264.1:p.Thr156Pro
ENST00000693681.1:c.463A>C	ENSP00000510789.1:p.Thr155Pro
ENST00000233838.9:c.1150A>C MANE Select	ENSP00000233838.3:p.Thr384Pro
ENST00000233838.8:c.1150A>C	ENSP00000233838.3:p.Thr384Pro
ENST00000430215.7:c.979A>C	ENSP00000408045.3:p.Thr327Pro
ENST00000465637.5:n.179-5233A>C
ENST00000473665.1:n.643A>C
ENST00000482662.1:n.567A>C
NM_000821.5:c.1150A>C	NP_000812.2:p.Thr384Pro
NM_000821.6:c.1150A>C	NP_000812.2:p.Thr384Pro
NM_001142269.2:c.979A>C	NP_001135741.1:p.Thr327Pro
NM_001142269.3:c.979A>C	NP_001135741.1:p.Thr327Pro
XM_005264259.3:c.1150A>C	XP_005264316.1:p.Thr384Pro
XM_011532764.1:c.328A>C	XP_011531066.1:p.Thr110Pro
XM_011532765.1:c.328A>C	XP_011531067.1:p.Thr110Pro
XR_939677.1:n.1215A>C
XM_005264259.5:c.1150A>C	XP_005264316.1:p.Thr384Pro
XM_011532764.3:c.328A>C	XP_011531066.1:p.Thr110Pro
XM_011532765.3:c.328A>C	XP_011531067.1:p.Thr110Pro
XM_017003803.2:c.979A>C	XP_016859292.1:p.Thr327Pro
XR_001738703.2:n.1215A>C
NM_000821.7:c.1150A>C MANE Select	NP_000812.2:p.Thr384Pro
NM_001142269.4:c.979A>C	NP_001135741.1:p.Thr327Pro