Canonical Allele Identifier: CA347484757

Gene: GGCX

Linked Data

• MyVariant Identifiers: chr2:g.85778953A>G (hg19) ; chr2:g.85551830A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85551830A>G , CM000664.2:g.85551830A>G	GRCh38
NC_000002.11:g.85778953A>G , CM000664.1:g.85778953A>G	GRCh37
NC_000002.10:g.85632464A>G	NCBI36
NG_011811.2:g.14705T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000473665.2:n.6069T>C
ENST00000482662.2:n.4476T>C
ENST00000685865.1:n.2428T>C
ENST00000687250.1:n.2128T>C
ENST00000687995.1:n.1943T>C
ENST00000688205.1:c.*1184T>C	ENSP00000509673.1:n.*1184T>C
ENST00000688788.1:n.1830T>C
ENST00000689276.1:c.1522T>C	ENSP00000510012.1:p.Phe508Leu
ENST00000689576.1:c.*210T>C	ENSP00000508712.1:n.*210T>C
ENST00000690108.1:c.*1247T>C	ENSP00000510617.1:n.*1247T>C
ENST00000690468.1:c.*143T>C	ENSP00000509078.1:n.*143T>C
ENST00000690595.1:c.916T>C	ENSP00000508979.1:p.Phe306Leu
ENST00000691348.1:c.*143T>C	ENSP00000509369.1:n.*143T>C
ENST00000691410.1:c.*1168T>C	ENSP00000508479.1:n.*1168T>C
ENST00000693287.1:c.907T>C	ENSP00000510264.1:p.Phe303Leu
ENST00000693681.1:c.904T>C	ENSP00000510789.1:p.Phe302Leu
ENST00000233838.9:c.1591T>C MANE Select	ENSP00000233838.3:p.Phe531Leu
ENST00000233838.8:c.1591T>C	ENSP00000233838.3:p.Phe531Leu
ENST00000430215.7:c.1420T>C	ENSP00000408045.3:p.Phe474Leu
ENST00000465637.5:n.179-3826T>C
NM_000821.5:c.1591T>C	NP_000812.2:p.Phe531Leu
NM_000821.6:c.1591T>C	NP_000812.2:p.Phe531Leu
NM_001142269.2:c.1420T>C	NP_001135741.1:p.Phe474Leu
NM_001142269.3:c.1420T>C	NP_001135741.1:p.Phe474Leu
XM_005264259.3:c.1591T>C	XP_005264316.1:p.Phe531Leu
XM_011532764.1:c.769T>C	XP_011531066.1:p.Phe257Leu
XM_011532765.1:c.769T>C	XP_011531067.1:p.Phe257Leu
XR_939677.1:n.1504T>C
XM_005264259.5:c.1591T>C	XP_005264316.1:p.Phe531Leu
XM_011532764.3:c.769T>C	XP_011531066.1:p.Phe257Leu
XM_011532765.3:c.769T>C	XP_011531067.1:p.Phe257Leu
XM_017003803.2:c.1420T>C	XP_016859292.1:p.Phe474Leu
XR_001738703.2:n.1504T>C
NM_000821.7:c.1591T>C MANE Select	NP_000812.2:p.Phe531Leu
NM_001142269.4:c.1420T>C	NP_001135741.1:p.Phe474Leu