Canonical Allele Identifier: CA347487161

Gene: GGCX

Linked Data

• MyVariant Identifiers: chr2:g.85780178T>G (hg19) ; chr2:g.85553055T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85553055T>G , CM000664.2:g.85553055T>G	GRCh38
NC_000002.11:g.85780178T>G , CM000664.1:g.85780178T>G	GRCh37
NC_000002.10:g.85633689T>G	NCBI36
NG_011811.2:g.13480A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000473665.2:n.5215A>C
ENST00000482662.2:n.3622A>C
ENST00000685865.1:n.1574A>C
ENST00000687250.1:n.1274A>C
ENST00000687995.1:n.1523A>C
ENST00000688205.1:c.*764A>C	ENSP00000509673.1:n.*764A>C
ENST00000688788.1:n.1410A>C
ENST00000689276.1:c.1102A>C	ENSP00000510012.1:p.Thr368Pro
ENST00000689576.1:c.1171A>C	ENSP00000508712.1:p.Thr391Pro
ENST00000690108.1:c.*827A>C	ENSP00000510617.1:n.*827A>C
ENST00000690468.1:c.892A>C	ENSP00000509078.1:p.Thr298Pro
ENST00000690595.1:c.496A>C	ENSP00000508979.1:p.Thr166Pro
ENST00000691348.1:c.1000A>C	ENSP00000509369.1:p.Thr334Pro
ENST00000691410.1:c.*748A>C	ENSP00000508479.1:n.*748A>C
ENST00000693287.1:c.487A>C	ENSP00000510264.1:p.Thr163Pro
ENST00000693681.1:c.484A>C	ENSP00000510789.1:p.Thr162Pro
ENST00000233838.9:c.1171A>C MANE Select	ENSP00000233838.3:p.Thr391Pro
ENST00000233838.8:c.1171A>C	ENSP00000233838.3:p.Thr391Pro
ENST00000430215.7:c.1000A>C	ENSP00000408045.3:p.Thr334Pro
ENST00000465637.5:n.179-5051A>C
ENST00000473665.1:n.664A>C
ENST00000482662.1:n.588A>C
NM_000821.5:c.1171A>C	NP_000812.2:p.Thr391Pro
NM_000821.6:c.1171A>C	NP_000812.2:p.Thr391Pro
NM_001142269.2:c.1000A>C	NP_001135741.1:p.Thr334Pro
NM_001142269.3:c.1000A>C	NP_001135741.1:p.Thr334Pro
XM_005264259.3:c.1171A>C	XP_005264316.1:p.Thr391Pro
XM_011532764.1:c.349A>C	XP_011531066.1:p.Thr117Pro
XM_011532765.1:c.349A>C	XP_011531067.1:p.Thr117Pro
XR_939677.1:n.1236A>C
XM_005264259.5:c.1171A>C	XP_005264316.1:p.Thr391Pro
XM_011532764.3:c.349A>C	XP_011531066.1:p.Thr117Pro
XM_011532765.3:c.349A>C	XP_011531067.1:p.Thr117Pro
XM_017003803.2:c.1000A>C	XP_016859292.1:p.Thr334Pro
XR_001738703.2:n.1236A>C
NM_000821.7:c.1171A>C MANE Select	NP_000812.2:p.Thr391Pro
NM_001142269.4:c.1000A>C	NP_001135741.1:p.Thr334Pro