Canonical Allele Identifier: CA347484968

Gene: GGCX

Linked Data

• gnomAD v4: 2-85551925-G-A
• MyVariant Identifiers: chr2:g.85779048G>A (hg19) ; chr2:g.85551925G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85551925G>A , CM000664.2:g.85551925G>A	GRCh38
NC_000002.11:g.85779048G>A , CM000664.1:g.85779048G>A	GRCh37
NC_000002.10:g.85632559G>A	NCBI36
NG_011811.2:g.14610C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000473665.2:n.5974C>T
ENST00000482662.2:n.4381C>T
ENST00000685865.1:n.2333C>T
ENST00000687250.1:n.2033C>T
ENST00000687995.1:n.1848C>T
ENST00000688205.1:c.*1089C>T	ENSP00000509673.1:n.*1089C>T
ENST00000688788.1:n.1735C>T
ENST00000689276.1:c.1427C>T	ENSP00000510012.1:p.Thr476Ile
ENST00000689576.1:c.*115C>T	ENSP00000508712.1:n.*115C>T
ENST00000690108.1:c.*1152C>T	ENSP00000510617.1:n.*1152C>T
ENST00000690468.1:c.*48C>T	ENSP00000509078.1:n.*48C>T
ENST00000690595.1:c.821C>T	ENSP00000508979.1:p.Thr274Ile
ENST00000691348.1:c.*48C>T	ENSP00000509369.1:n.*48C>T
ENST00000691410.1:c.*1073C>T	ENSP00000508479.1:n.*1073C>T
ENST00000693287.1:c.812C>T	ENSP00000510264.1:p.Thr271Ile
ENST00000693681.1:c.809C>T	ENSP00000510789.1:p.Thr270Ile
ENST00000233838.9:c.1496C>T MANE Select	ENSP00000233838.3:p.Thr499Ile
ENST00000233838.8:c.1496C>T	ENSP00000233838.3:p.Thr499Ile
ENST00000430215.7:c.1325C>T	ENSP00000408045.3:p.Thr442Ile
ENST00000465637.5:n.179-3921C>T
NM_000821.5:c.1496C>T	NP_000812.2:p.Thr499Ile
NM_000821.6:c.1496C>T	NP_000812.2:p.Thr499Ile
NM_001142269.2:c.1325C>T	NP_001135741.1:p.Thr442Ile
NM_001142269.3:c.1325C>T	NP_001135741.1:p.Thr442Ile
XM_005264259.3:c.1496C>T	XP_005264316.1:p.Thr499Ile
XM_011532764.1:c.674C>T	XP_011531066.1:p.Thr225Ile
XM_011532765.1:c.674C>T	XP_011531067.1:p.Thr225Ile
XR_939677.1:n.1409C>T
XM_005264259.5:c.1496C>T	XP_005264316.1:p.Thr499Ile
XM_011532764.3:c.674C>T	XP_011531066.1:p.Thr225Ile
XM_011532765.3:c.674C>T	XP_011531067.1:p.Thr225Ile
XM_017003803.2:c.1325C>T	XP_016859292.1:p.Thr442Ile
XR_001738703.2:n.1409C>T
NM_000821.7:c.1496C>T MANE Select	NP_000812.2:p.Thr499Ile
NM_001142269.4:c.1325C>T	NP_001135741.1:p.Thr442Ile