Canonical Allele Identifier: CA1741922

Gene: GGCX

Linked Data

• dbSNP Id: rs777118237
• ExAC: 2:85780387 G / A
• gnomAD v2: 2-85780387-G-A
• gnomAD v4: 2-85553264-G-A
• MyVariant Identifiers: chr2:g.85780387G>A (hg19) ; chr2:g.85553264G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85553264G>A , CM000664.2:g.85553264G>A	GRCh38
NC_000002.11:g.85780387G>A , CM000664.1:g.85780387G>A	GRCh37
NC_000002.10:g.85633898G>A	NCBI36
NG_011811.2:g.13271C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000473665.2:n.5167C>T
ENST00000482662.2:n.3574C>T
ENST00000685865.1:n.1526C>T
ENST00000687250.1:n.1226C>T
ENST00000687995.1:n.1475C>T
ENST00000688205.1:c.*716C>T	ENSP00000509673.1:n.*716C>T
ENST00000688788.1:n.1362C>T
ENST00000689276.1:c.1054C>T	ENSP00000510012.1:p.Leu352=
ENST00000689576.1:c.1123C>T	ENSP00000508712.1:p.Leu375=
ENST00000690108.1:c.*779C>T	ENSP00000510617.1:n.*779C>T
ENST00000690468.1:c.844C>T	ENSP00000509078.1:p.Leu282=
ENST00000690595.1:c.448C>T	ENSP00000508979.1:p.Leu150=
ENST00000691348.1:c.952C>T	ENSP00000509369.1:p.Leu318=
ENST00000691410.1:c.*700C>T	ENSP00000508479.1:n.*700C>T
ENST00000693287.1:c.439C>T	ENSP00000510264.1:p.Leu147=
ENST00000693681.1:c.436C>T	ENSP00000510789.1:p.Leu146=
ENST00000233838.9:c.1123C>T MANE Select	ENSP00000233838.3:p.Leu375=
ENST00000233838.8:c.1123C>T	ENSP00000233838.3:p.Leu375=
ENST00000430215.7:c.952C>T	ENSP00000408045.3:p.Leu318=
ENST00000465637.5:n.179-5260C>T
ENST00000473665.1:n.616C>T
ENST00000482662.1:n.540C>T
NM_000821.5:c.1123C>T	NP_000812.2:p.Leu375=
NM_000821.6:c.1123C>T	NP_000812.2:p.Leu375=
NM_001142269.2:c.952C>T	NP_001135741.1:p.Leu318=
NM_001142269.3:c.952C>T	NP_001135741.1:p.Leu318=
XM_005264259.3:c.1123C>T	XP_005264316.1:p.Leu375=
XM_011532764.1:c.301C>T	XP_011531066.1:p.Leu101=
XM_011532765.1:c.301C>T	XP_011531067.1:p.Leu101=
XR_939677.1:n.1188C>T
XM_005264259.5:c.1123C>T	XP_005264316.1:p.Leu375=
XM_011532764.3:c.301C>T	XP_011531066.1:p.Leu101=
XM_011532765.3:c.301C>T	XP_011531067.1:p.Leu101=
XM_017003803.2:c.952C>T	XP_016859292.1:p.Leu318=
XR_001738703.2:n.1188C>T
NM_000821.7:c.1123C>T MANE Select	NP_000812.2:p.Leu375=
NM_001142269.4:c.952C>T	NP_001135741.1:p.Leu318=