Canonical Allele Identifier: CA347492101

Gene: GGCX

Linked Data

• MyVariant Identifiers: chr2:g.85786078A>C (hg19) ; chr2:g.85558955A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85558955A>C , CM000664.2:g.85558955A>C	GRCh38
NC_000002.11:g.85786078A>C , CM000664.1:g.85786078A>C	GRCh37
NC_000002.10:g.85639589A>C	NCBI36
NG_011811.2:g.7580T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000473665.2:n.121T>G
ENST00000482662.2:n.402T>G
ENST00000496962.2:c.335T>G	ENSP00000508856.1:p.Leu112Arg
ENST00000685865.1:n.427T>G
ENST00000687250.1:n.438T>G
ENST00000687995.1:n.376T>G
ENST00000688205.1:c.335T>G	ENSP00000509673.1:p.Leu112Arg
ENST00000688788.1:n.427T>G
ENST00000689276.1:c.335T>G	ENSP00000510012.1:p.Leu112Arg
ENST00000689576.1:c.335T>G	ENSP00000508712.1:p.Leu112Arg
ENST00000690108.1:c.335T>G	ENSP00000510617.1:p.Leu112Arg
ENST00000690468.1:c.164T>G	ENSP00000509078.1:p.Leu55Arg
ENST00000690595.1:c.214+1860T>G	ENSP00000508979.1:n.214+1860T>G
ENST00000691348.1:c.164T>G	ENSP00000509369.1:p.Leu55Arg
ENST00000691410.1:c.335T>G	ENSP00000508479.1:p.Leu112Arg
ENST00000693287.1:c.-67+2431T>G	ENSP00000510264.1:n.-67+2431T>G
ENST00000693681.1:c.164T>G	ENSP00000510789.1:p.Leu55Arg
ENST00000233838.9:c.335T>G MANE Select	ENSP00000233838.3:p.Leu112Arg
ENST00000233838.8:c.335T>G	ENSP00000233838.3:p.Leu112Arg
ENST00000421496.5:c.164T>G	ENSP00000400384.1:p.Leu55Arg
ENST00000423570.5:c.335T>G	ENSP00000389426.1:p.Leu112Arg
ENST00000428479.3:c.164T>G	ENSP00000390748.3:p.Leu55Arg
ENST00000430215.7:c.164T>G	ENSP00000408045.3:p.Leu55Arg
ENST00000465637.5:n.178+51T>G
ENST00000481541.1:n.229T>G
ENST00000496962.1:n.454T>G
NM_000821.5:c.335T>G	NP_000812.2:p.Leu112Arg
NM_000821.6:c.335T>G	NP_000812.2:p.Leu112Arg
NM_001142269.2:c.164T>G	NP_001135741.1:p.Leu55Arg
NM_001142269.3:c.164T>G	NP_001135741.1:p.Leu55Arg
NM_001311312.1:c.335T>G	NP_001298241.1:p.Leu112Arg
XM_005264259.3:c.335T>G	XP_005264316.1:p.Leu112Arg
XM_011532764.1:c.-324T>G	XP_011531066.1:n.-324T>G
XM_011532765.1:c.-324T>G	XP_011531067.1:n.-324T>G
XR_939677.1:n.400T>G
XM_005264259.5:c.335T>G	XP_005264316.1:p.Leu112Arg
XM_011532764.3:c.-324T>G	XP_011531066.1:n.-324T>G
XM_011532765.3:c.-324T>G	XP_011531067.1:n.-324T>G
XM_017003803.2:c.164T>G	XP_016859292.1:p.Leu55Arg
XR_001738703.2:n.400T>G
NM_000821.7:c.335T>G MANE Select	NP_000812.2:p.Leu112Arg
NM_001142269.4:c.164T>G	NP_001135741.1:p.Leu55Arg
NM_001311312.2:c.335T>G	NP_001298241.1:p.Leu112Arg