Canonical Allele Identifier: CA427091855

Gene: GGCX

Linked Data

• MyVariant Identifiers: chr2:g.85786041C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85558918C>A , CM000664.2:g.85558918C>A	GRCh38
NC_000002.11:g.85786041C>A , CM000664.1:g.85786041C>A	GRCh37
NC_000002.10:g.85639552C>A	NCBI36
NG_011811.2:g.7617G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000473665.2:n.158G>T
ENST00000482662.2:n.411+28G>T
ENST00000496962.2:c.372G>T	ENSP00000508856.1:p.Leu124=
ENST00000685865.1:n.464G>T
ENST00000687250.1:n.475G>T
ENST00000687995.1:n.413G>T
ENST00000688205.1:c.372G>T	ENSP00000509673.1:p.Leu124=
ENST00000688788.1:n.464G>T
ENST00000689276.1:c.344+28G>T	ENSP00000510012.1:n.344+28G>T
ENST00000689576.1:c.372G>T	ENSP00000508712.1:p.Leu124=
ENST00000690108.1:c.344+28G>T	ENSP00000510617.1:n.344+28G>T
ENST00000690468.1:c.173+28G>T	ENSP00000509078.1:n.173+28G>T
ENST00000690595.1:c.214+1897G>T	ENSP00000508979.1:n.214+1897G>T
ENST00000691348.1:c.201G>T	ENSP00000509369.1:p.Leu67=
ENST00000691410.1:c.344+28G>T	ENSP00000508479.1:n.344+28G>T
ENST00000693287.1:c.-67+2468G>T	ENSP00000510264.1:n.-67+2468G>T
ENST00000693681.1:c.201G>T	ENSP00000510789.1:p.Leu67=
ENST00000233838.9:c.372G>T MANE Select	ENSP00000233838.3:p.Leu124=
ENST00000233838.8:c.372G>T	ENSP00000233838.3:p.Leu124=
ENST00000421496.5:c.173+28G>T	ENSP00000400384.1:n.173+28G>T
ENST00000423570.5:c.344+28G>T	ENSP00000389426.1:n.344+28G>T
ENST00000428479.3:c.201G>T	ENSP00000390748.3:p.Leu67=
ENST00000430215.7:c.201G>T	ENSP00000408045.3:p.Leu67=
ENST00000465637.5:n.178+88G>T
ENST00000481541.1:n.266G>T
ENST00000496962.1:n.491G>T
NM_000821.5:c.372G>T	NP_000812.2:p.Leu124=
NM_000821.6:c.372G>T	NP_000812.2:p.Leu124=
NM_001142269.2:c.201G>T	NP_001135741.1:p.Leu67=
NM_001142269.3:c.201G>T	NP_001135741.1:p.Leu67=
NM_001311312.1:c.372G>T	NP_001298241.1:p.Leu124=
XM_005264259.3:c.372G>T	XP_005264316.1:p.Leu124=
XM_011532764.1:c.-287G>T	XP_011531066.1:n.-287G>T
XM_011532765.1:c.-287G>T	XP_011531067.1:n.-287G>T
XR_939677.1:n.437G>T
XM_005264259.5:c.372G>T	XP_005264316.1:p.Leu124=
XM_011532764.3:c.-287G>T	XP_011531066.1:n.-287G>T
XM_011532765.3:c.-287G>T	XP_011531067.1:n.-287G>T
XM_017003803.2:c.201G>T	XP_016859292.1:p.Leu67=
XR_001738703.2:n.437G>T
NM_000821.7:c.372G>T MANE Select	NP_000812.2:p.Leu124=
NM_001142269.4:c.201G>T	NP_001135741.1:p.Leu67=
NM_001311312.2:c.372G>T	NP_001298241.1:p.Leu124=