Canonical Allele Identifier: CA347487343

Gene: GGCX

Linked Data

• gnomAD v4: 2-85553249-A-G
• MyVariant Identifiers: chr2:g.85780372A>G (hg19) ; chr2:g.85553249A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85553249A>G , CM000664.2:g.85553249A>G	GRCh38
NC_000002.11:g.85780372A>G , CM000664.1:g.85780372A>G	GRCh37
NC_000002.10:g.85633883A>G	NCBI36
NG_011811.2:g.13286T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000473665.2:n.5182T>C
ENST00000482662.2:n.3589T>C
ENST00000685865.1:n.1541T>C
ENST00000687250.1:n.1241T>C
ENST00000687995.1:n.1490T>C
ENST00000688205.1:c.*731T>C	ENSP00000509673.1:n.*731T>C
ENST00000688788.1:n.1377T>C
ENST00000689276.1:c.1069T>C	ENSP00000510012.1:p.Ser357Pro
ENST00000689576.1:c.1138T>C	ENSP00000508712.1:p.Ser380Pro
ENST00000690108.1:c.*794T>C	ENSP00000510617.1:n.*794T>C
ENST00000690468.1:c.859T>C	ENSP00000509078.1:p.Ser287Pro
ENST00000690595.1:c.463T>C	ENSP00000508979.1:p.Ser155Pro
ENST00000691348.1:c.967T>C	ENSP00000509369.1:p.Ser323Pro
ENST00000691410.1:c.*715T>C	ENSP00000508479.1:n.*715T>C
ENST00000693287.1:c.454T>C	ENSP00000510264.1:p.Ser152Pro
ENST00000693681.1:c.451T>C	ENSP00000510789.1:p.Ser151Pro
ENST00000233838.9:c.1138T>C MANE Select	ENSP00000233838.3:p.Ser380Pro
ENST00000233838.8:c.1138T>C	ENSP00000233838.3:p.Ser380Pro
ENST00000430215.7:c.967T>C	ENSP00000408045.3:p.Ser323Pro
ENST00000465637.5:n.179-5245T>C
ENST00000473665.1:n.631T>C
ENST00000482662.1:n.555T>C
NM_000821.5:c.1138T>C	NP_000812.2:p.Ser380Pro
NM_000821.6:c.1138T>C	NP_000812.2:p.Ser380Pro
NM_001142269.2:c.967T>C	NP_001135741.1:p.Ser323Pro
NM_001142269.3:c.967T>C	NP_001135741.1:p.Ser323Pro
XM_005264259.3:c.1138T>C	XP_005264316.1:p.Ser380Pro
XM_011532764.1:c.316T>C	XP_011531066.1:p.Ser106Pro
XM_011532765.1:c.316T>C	XP_011531067.1:p.Ser106Pro
XR_939677.1:n.1203T>C
XM_005264259.5:c.1138T>C	XP_005264316.1:p.Ser380Pro
XM_011532764.3:c.316T>C	XP_011531066.1:p.Ser106Pro
XM_011532765.3:c.316T>C	XP_011531067.1:p.Ser106Pro
XM_017003803.2:c.967T>C	XP_016859292.1:p.Ser323Pro
XR_001738703.2:n.1203T>C
NM_000821.7:c.1138T>C MANE Select	NP_000812.2:p.Ser380Pro
NM_001142269.4:c.967T>C	NP_001135741.1:p.Ser323Pro