Canonical Allele Identifier: CA347491992

Gene: GGCX

Linked Data

• MyVariant Identifiers: chr2:g.85786052T>G (hg19) ; chr2:g.85558929T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85558929T>G , CM000664.2:g.85558929T>G	GRCh38
NC_000002.11:g.85786052T>G , CM000664.1:g.85786052T>G	GRCh37
NC_000002.10:g.85639563T>G	NCBI36
NG_011811.2:g.7606A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000473665.2:n.147A>C
ENST00000482662.2:n.411+17A>C
ENST00000496962.2:c.361A>C	ENSP00000508856.1:p.Ile121Leu
ENST00000685865.1:n.453A>C
ENST00000687250.1:n.464A>C
ENST00000687995.1:n.402A>C
ENST00000688205.1:c.361A>C	ENSP00000509673.1:p.Ile121Leu
ENST00000688788.1:n.453A>C
ENST00000689276.1:c.344+17A>C	ENSP00000510012.1:n.344+17A>C
ENST00000689576.1:c.361A>C	ENSP00000508712.1:p.Ile121Leu
ENST00000690108.1:c.344+17A>C	ENSP00000510617.1:n.344+17A>C
ENST00000690468.1:c.173+17A>C	ENSP00000509078.1:n.173+17A>C
ENST00000690595.1:c.214+1886A>C	ENSP00000508979.1:n.214+1886A>C
ENST00000691348.1:c.190A>C	ENSP00000509369.1:p.Ile64Leu
ENST00000691410.1:c.344+17A>C	ENSP00000508479.1:n.344+17A>C
ENST00000693287.1:c.-67+2457A>C	ENSP00000510264.1:n.-67+2457A>C
ENST00000693681.1:c.190A>C	ENSP00000510789.1:p.Ile64Leu
ENST00000233838.9:c.361A>C MANE Select	ENSP00000233838.3:p.Ile121Leu
ENST00000233838.8:c.361A>C	ENSP00000233838.3:p.Ile121Leu
ENST00000421496.5:c.173+17A>C	ENSP00000400384.1:n.173+17A>C
ENST00000423570.5:c.344+17A>C	ENSP00000389426.1:n.344+17A>C
ENST00000428479.3:c.190A>C	ENSP00000390748.3:p.Ile64Leu
ENST00000430215.7:c.190A>C	ENSP00000408045.3:p.Ile64Leu
ENST00000465637.5:n.178+77A>C
ENST00000481541.1:n.255A>C
ENST00000496962.1:n.480A>C
NM_000821.5:c.361A>C	NP_000812.2:p.Ile121Leu
NM_000821.6:c.361A>C	NP_000812.2:p.Ile121Leu
NM_001142269.2:c.190A>C	NP_001135741.1:p.Ile64Leu
NM_001142269.3:c.190A>C	NP_001135741.1:p.Ile64Leu
NM_001311312.1:c.361A>C	NP_001298241.1:p.Ile121Leu
XM_005264259.3:c.361A>C	XP_005264316.1:p.Ile121Leu
XM_011532764.1:c.-298A>C	XP_011531066.1:n.-298A>C
XM_011532765.1:c.-298A>C	XP_011531067.1:n.-298A>C
XR_939677.1:n.426A>C
XM_005264259.5:c.361A>C	XP_005264316.1:p.Ile121Leu
XM_011532764.3:c.-298A>C	XP_011531066.1:n.-298A>C
XM_011532765.3:c.-298A>C	XP_011531067.1:n.-298A>C
XM_017003803.2:c.190A>C	XP_016859292.1:p.Ile64Leu
XR_001738703.2:n.426A>C
NM_000821.7:c.361A>C MANE Select	NP_000812.2:p.Ile121Leu
NM_001142269.4:c.190A>C	NP_001135741.1:p.Ile64Leu
NM_001311312.2:c.361A>C	NP_001298241.1:p.Ile121Leu