Canonical Allele Identifier: CA427440113

Gene: GGCX

Linked Data

• ClinVar Variation Id: 895041
• ClinVar RCV Id: RCV001136909
• dbSNP Id: rs1691972995
• MyVariant Identifiers: chr2:g.85779059G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85551936G>A , CM000664.2:g.85551936G>A	GRCh38
NC_000002.11:g.85779059G>A , CM000664.1:g.85779059G>A	GRCh37
NC_000002.10:g.85632570G>A	NCBI36
NG_011811.2:g.14599C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000473665.2:n.5963C>T
ENST00000482662.2:n.4370C>T
ENST00000685865.1:n.2322C>T
ENST00000687250.1:n.2022C>T
ENST00000687995.1:n.1837C>T
ENST00000688205.1:c.*1078C>T	ENSP00000509673.1:n.*1078C>T
ENST00000688788.1:n.1724C>T
ENST00000689276.1:c.1416C>T	ENSP00000510012.1:p.Pro472=
ENST00000689576.1:c.*104C>T	ENSP00000508712.1:n.*104C>T
ENST00000690108.1:c.*1141C>T	ENSP00000510617.1:n.*1141C>T
ENST00000690468.1:c.*37C>T	ENSP00000509078.1:n.*37C>T
ENST00000690595.1:c.810C>T	ENSP00000508979.1:p.Pro270=
ENST00000691348.1:c.*37C>T	ENSP00000509369.1:n.*37C>T
ENST00000691410.1:c.*1062C>T	ENSP00000508479.1:n.*1062C>T
ENST00000693287.1:c.801C>T	ENSP00000510264.1:p.Pro267=
ENST00000693681.1:c.798C>T	ENSP00000510789.1:p.Pro266=
ENST00000233838.9:c.1485C>T MANE Select	ENSP00000233838.3:p.Pro495=
ENST00000233838.8:c.1485C>T	ENSP00000233838.3:p.Pro495=
ENST00000430215.7:c.1314C>T	ENSP00000408045.3:p.Pro438=
ENST00000465637.5:n.179-3932C>T
NM_000821.5:c.1485C>T	NP_000812.2:p.Pro495=
NM_000821.6:c.1485C>T	NP_000812.2:p.Pro495=
NM_001142269.2:c.1314C>T	NP_001135741.1:p.Pro438=
NM_001142269.3:c.1314C>T	NP_001135741.1:p.Pro438=
XM_005264259.3:c.1485C>T	XP_005264316.1:p.Pro495=
XM_011532764.1:c.663C>T	XP_011531066.1:p.Pro221=
XM_011532765.1:c.663C>T	XP_011531067.1:p.Pro221=
XR_939677.1:n.1398C>T
XM_005264259.5:c.1485C>T	XP_005264316.1:p.Pro495=
XM_011532764.3:c.663C>T	XP_011531066.1:p.Pro221=
XM_011532765.3:c.663C>T	XP_011531067.1:p.Pro221=
XM_017003803.2:c.1314C>T	XP_016859292.1:p.Pro438=
XR_001738703.2:n.1398C>T
NM_000821.7:c.1485C>T MANE Select	NP_000812.2:p.Pro495=
NM_001142269.4:c.1314C>T	NP_001135741.1:p.Pro438=