Canonical Allele Identifier: CA347491941

Gene: GGCX

Linked Data

• MyVariant Identifiers: chr2:g.85786042A>C (hg19) ; chr2:g.85558919A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85558919A>C , CM000664.2:g.85558919A>C	GRCh38
NC_000002.11:g.85786042A>C , CM000664.1:g.85786042A>C	GRCh37
NC_000002.10:g.85639553A>C	NCBI36
NG_011811.2:g.7616T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000473665.2:n.157T>G
ENST00000482662.2:n.411+27T>G
ENST00000496962.2:c.371T>G	ENSP00000508856.1:p.Leu124Arg
ENST00000685865.1:n.463T>G
ENST00000687250.1:n.474T>G
ENST00000687995.1:n.412T>G
ENST00000688205.1:c.371T>G	ENSP00000509673.1:p.Leu124Arg
ENST00000688788.1:n.463T>G
ENST00000689276.1:c.344+27T>G	ENSP00000510012.1:n.344+27T>G
ENST00000689576.1:c.371T>G	ENSP00000508712.1:p.Leu124Arg
ENST00000690108.1:c.344+27T>G	ENSP00000510617.1:n.344+27T>G
ENST00000690468.1:c.173+27T>G	ENSP00000509078.1:n.173+27T>G
ENST00000690595.1:c.214+1896T>G	ENSP00000508979.1:n.214+1896T>G
ENST00000691348.1:c.200T>G	ENSP00000509369.1:p.Leu67Arg
ENST00000691410.1:c.344+27T>G	ENSP00000508479.1:n.344+27T>G
ENST00000693287.1:c.-67+2467T>G	ENSP00000510264.1:n.-67+2467T>G
ENST00000693681.1:c.200T>G	ENSP00000510789.1:p.Leu67Arg
ENST00000233838.9:c.371T>G MANE Select	ENSP00000233838.3:p.Leu124Arg
ENST00000233838.8:c.371T>G	ENSP00000233838.3:p.Leu124Arg
ENST00000421496.5:c.173+27T>G	ENSP00000400384.1:n.173+27T>G
ENST00000423570.5:c.344+27T>G	ENSP00000389426.1:n.344+27T>G
ENST00000428479.3:c.200T>G	ENSP00000390748.3:p.Leu67Arg
ENST00000430215.7:c.200T>G	ENSP00000408045.3:p.Leu67Arg
ENST00000465637.5:n.178+87T>G
ENST00000481541.1:n.265T>G
ENST00000496962.1:n.490T>G
NM_000821.5:c.371T>G	NP_000812.2:p.Leu124Arg
NM_000821.6:c.371T>G	NP_000812.2:p.Leu124Arg
NM_001142269.2:c.200T>G	NP_001135741.1:p.Leu67Arg
NM_001142269.3:c.200T>G	NP_001135741.1:p.Leu67Arg
NM_001311312.1:c.371T>G	NP_001298241.1:p.Leu124Arg
XM_005264259.3:c.371T>G	XP_005264316.1:p.Leu124Arg
XM_011532764.1:c.-288T>G	XP_011531066.1:n.-288T>G
XM_011532765.1:c.-288T>G	XP_011531067.1:n.-288T>G
XR_939677.1:n.436T>G
XM_005264259.5:c.371T>G	XP_005264316.1:p.Leu124Arg
XM_011532764.3:c.-288T>G	XP_011531066.1:n.-288T>G
XM_011532765.3:c.-288T>G	XP_011531067.1:n.-288T>G
XM_017003803.2:c.200T>G	XP_016859292.1:p.Leu67Arg
XR_001738703.2:n.436T>G
NM_000821.7:c.371T>G MANE Select	NP_000812.2:p.Leu124Arg
NM_001142269.4:c.200T>G	NP_001135741.1:p.Leu67Arg
NM_001311312.2:c.371T>G	NP_001298241.1:p.Leu124Arg