Canonical Allele Identifier: CA347487363

Gene: GGCX

Linked Data

• MyVariant Identifiers: chr2:g.85780378G>A (hg19) ; chr2:g.85553255G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85553255G>A , CM000664.2:g.85553255G>A	GRCh38
NC_000002.11:g.85780378G>A , CM000664.1:g.85780378G>A	GRCh37
NC_000002.10:g.85633889G>A	NCBI36
NG_011811.2:g.13280C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000473665.2:n.5176C>T
ENST00000482662.2:n.3583C>T
ENST00000685865.1:n.1535C>T
ENST00000687250.1:n.1235C>T
ENST00000687995.1:n.1484C>T
ENST00000688205.1:c.*725C>T	ENSP00000509673.1:n.*725C>T
ENST00000688788.1:n.1371C>T
ENST00000689276.1:c.1063C>T	ENSP00000510012.1:p.Pro355Ser
ENST00000689576.1:c.1132C>T	ENSP00000508712.1:p.Pro378Ser
ENST00000690108.1:c.*788C>T	ENSP00000510617.1:n.*788C>T
ENST00000690468.1:c.853C>T	ENSP00000509078.1:p.Pro285Ser
ENST00000690595.1:c.457C>T	ENSP00000508979.1:p.Pro153Ser
ENST00000691348.1:c.961C>T	ENSP00000509369.1:p.Pro321Ser
ENST00000691410.1:c.*709C>T	ENSP00000508479.1:n.*709C>T
ENST00000693287.1:c.448C>T	ENSP00000510264.1:p.Pro150Ser
ENST00000693681.1:c.445C>T	ENSP00000510789.1:p.Pro149Ser
ENST00000233838.9:c.1132C>T MANE Select	ENSP00000233838.3:p.Pro378Ser
ENST00000233838.8:c.1132C>T	ENSP00000233838.3:p.Pro378Ser
ENST00000430215.7:c.961C>T	ENSP00000408045.3:p.Pro321Ser
ENST00000465637.5:n.179-5251C>T
ENST00000473665.1:n.625C>T
ENST00000482662.1:n.549C>T
NM_000821.5:c.1132C>T	NP_000812.2:p.Pro378Ser
NM_000821.6:c.1132C>T	NP_000812.2:p.Pro378Ser
NM_001142269.2:c.961C>T	NP_001135741.1:p.Pro321Ser
NM_001142269.3:c.961C>T	NP_001135741.1:p.Pro321Ser
XM_005264259.3:c.1132C>T	XP_005264316.1:p.Pro378Ser
XM_011532764.1:c.310C>T	XP_011531066.1:p.Pro104Ser
XM_011532765.1:c.310C>T	XP_011531067.1:p.Pro104Ser
XR_939677.1:n.1197C>T
XM_005264259.5:c.1132C>T	XP_005264316.1:p.Pro378Ser
XM_011532764.3:c.310C>T	XP_011531066.1:p.Pro104Ser
XM_011532765.3:c.310C>T	XP_011531067.1:p.Pro104Ser
XM_017003803.2:c.961C>T	XP_016859292.1:p.Pro321Ser
XR_001738703.2:n.1197C>T
NM_000821.7:c.1132C>T MANE Select	NP_000812.2:p.Pro378Ser
NM_001142269.4:c.961C>T	NP_001135741.1:p.Pro321Ser