Canonical Allele Identifier: CA347487370

Gene: GGCX

Linked Data

• MyVariant Identifiers: chr2:g.85780380A>G (hg19) ; chr2:g.85553257A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85553257A>G , CM000664.2:g.85553257A>G	GRCh38
NC_000002.11:g.85780380A>G , CM000664.1:g.85780380A>G	GRCh37
NC_000002.10:g.85633891A>G	NCBI36
NG_011811.2:g.13278T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000473665.2:n.5174T>C
ENST00000482662.2:n.3581T>C
ENST00000685865.1:n.1533T>C
ENST00000687250.1:n.1233T>C
ENST00000687995.1:n.1482T>C
ENST00000688205.1:c.*723T>C	ENSP00000509673.1:n.*723T>C
ENST00000688788.1:n.1369T>C
ENST00000689276.1:c.1061T>C	ENSP00000510012.1:p.Leu354Pro
ENST00000689576.1:c.1130T>C	ENSP00000508712.1:p.Leu377Pro
ENST00000690108.1:c.*786T>C	ENSP00000510617.1:n.*786T>C
ENST00000690468.1:c.851T>C	ENSP00000509078.1:p.Leu284Pro
ENST00000690595.1:c.455T>C	ENSP00000508979.1:p.Leu152Pro
ENST00000691348.1:c.959T>C	ENSP00000509369.1:p.Leu320Pro
ENST00000691410.1:c.*707T>C	ENSP00000508479.1:n.*707T>C
ENST00000693287.1:c.446T>C	ENSP00000510264.1:p.Leu149Pro
ENST00000693681.1:c.443T>C	ENSP00000510789.1:p.Leu148Pro
ENST00000233838.9:c.1130T>C MANE Select	ENSP00000233838.3:p.Leu377Pro
ENST00000233838.8:c.1130T>C	ENSP00000233838.3:p.Leu377Pro
ENST00000430215.7:c.959T>C	ENSP00000408045.3:p.Leu320Pro
ENST00000465637.5:n.179-5253T>C
ENST00000473665.1:n.623T>C
ENST00000482662.1:n.547T>C
NM_000821.5:c.1130T>C	NP_000812.2:p.Leu377Pro
NM_000821.6:c.1130T>C	NP_000812.2:p.Leu377Pro
NM_001142269.2:c.959T>C	NP_001135741.1:p.Leu320Pro
NM_001142269.3:c.959T>C	NP_001135741.1:p.Leu320Pro
XM_005264259.3:c.1130T>C	XP_005264316.1:p.Leu377Pro
XM_011532764.1:c.308T>C	XP_011531066.1:p.Leu103Pro
XM_011532765.1:c.308T>C	XP_011531067.1:p.Leu103Pro
XR_939677.1:n.1195T>C
XM_005264259.5:c.1130T>C	XP_005264316.1:p.Leu377Pro
XM_011532764.3:c.308T>C	XP_011531066.1:p.Leu103Pro
XM_011532765.3:c.308T>C	XP_011531067.1:p.Leu103Pro
XM_017003803.2:c.959T>C	XP_016859292.1:p.Leu320Pro
XR_001738703.2:n.1195T>C
NM_000821.7:c.1130T>C MANE Select	NP_000812.2:p.Leu377Pro
NM_001142269.4:c.959T>C	NP_001135741.1:p.Leu320Pro