Canonical Allele Identifier: CA347484966

Gene: GGCX

Linked Data

• MyVariant Identifiers: chr2:g.85779046A>G (hg19) ; chr2:g.85551923A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85551923A>G , CM000664.2:g.85551923A>G	GRCh38
NC_000002.11:g.85779046A>G , CM000664.1:g.85779046A>G	GRCh37
NC_000002.10:g.85632557A>G	NCBI36
NG_011811.2:g.14612T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000473665.2:n.5976T>C
ENST00000482662.2:n.4383T>C
ENST00000685865.1:n.2335T>C
ENST00000687250.1:n.2035T>C
ENST00000687995.1:n.1850T>C
ENST00000688205.1:c.*1091T>C	ENSP00000509673.1:n.*1091T>C
ENST00000688788.1:n.1737T>C
ENST00000689276.1:c.1429T>C	ENSP00000510012.1:p.Ser477Pro
ENST00000689576.1:c.*117T>C	ENSP00000508712.1:n.*117T>C
ENST00000690108.1:c.*1154T>C	ENSP00000510617.1:n.*1154T>C
ENST00000690468.1:c.*50T>C	ENSP00000509078.1:n.*50T>C
ENST00000690595.1:c.823T>C	ENSP00000508979.1:p.Ser275Pro
ENST00000691348.1:c.*50T>C	ENSP00000509369.1:n.*50T>C
ENST00000691410.1:c.*1075T>C	ENSP00000508479.1:n.*1075T>C
ENST00000693287.1:c.814T>C	ENSP00000510264.1:p.Ser272Pro
ENST00000693681.1:c.811T>C	ENSP00000510789.1:p.Ser271Pro
ENST00000233838.9:c.1498T>C MANE Select	ENSP00000233838.3:p.Ser500Pro
ENST00000233838.8:c.1498T>C	ENSP00000233838.3:p.Ser500Pro
ENST00000430215.7:c.1327T>C	ENSP00000408045.3:p.Ser443Pro
ENST00000465637.5:n.179-3919T>C
NM_000821.5:c.1498T>C	NP_000812.2:p.Ser500Pro
NM_000821.6:c.1498T>C	NP_000812.2:p.Ser500Pro
NM_001142269.2:c.1327T>C	NP_001135741.1:p.Ser443Pro
NM_001142269.3:c.1327T>C	NP_001135741.1:p.Ser443Pro
XM_005264259.3:c.1498T>C	XP_005264316.1:p.Ser500Pro
XM_011532764.1:c.676T>C	XP_011531066.1:p.Ser226Pro
XM_011532765.1:c.676T>C	XP_011531067.1:p.Ser226Pro
XR_939677.1:n.1411T>C
XM_005264259.5:c.1498T>C	XP_005264316.1:p.Ser500Pro
XM_011532764.3:c.676T>C	XP_011531066.1:p.Ser226Pro
XM_011532765.3:c.676T>C	XP_011531067.1:p.Ser226Pro
XM_017003803.2:c.1327T>C	XP_016859292.1:p.Ser443Pro
XR_001738703.2:n.1411T>C
NM_000821.7:c.1498T>C MANE Select	NP_000812.2:p.Ser500Pro
NM_001142269.4:c.1327T>C	NP_001135741.1:p.Ser443Pro