Canonical Allele Identifier: CA347484999

Gene: GGCX

Linked Data

• MyVariant Identifiers: chr2:g.85779061G>T (hg19) ; chr2:g.85551938G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85551938G>T , CM000664.2:g.85551938G>T	GRCh38
NC_000002.11:g.85779061G>T , CM000664.1:g.85779061G>T	GRCh37
NC_000002.10:g.85632572G>T	NCBI36
NG_011811.2:g.14597C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000473665.2:n.5961C>A
ENST00000482662.2:n.4368C>A
ENST00000685865.1:n.2320C>A
ENST00000687250.1:n.2020C>A
ENST00000687995.1:n.1835C>A
ENST00000688205.1:c.*1076C>A	ENSP00000509673.1:n.*1076C>A
ENST00000688788.1:n.1722C>A
ENST00000689276.1:c.1414C>A	ENSP00000510012.1:p.Pro472Thr
ENST00000689576.1:c.*102C>A	ENSP00000508712.1:n.*102C>A
ENST00000690108.1:c.*1139C>A	ENSP00000510617.1:n.*1139C>A
ENST00000690468.1:c.*35C>A	ENSP00000509078.1:n.*35C>A
ENST00000690595.1:c.808C>A	ENSP00000508979.1:p.Pro270Thr
ENST00000691348.1:c.*35C>A	ENSP00000509369.1:n.*35C>A
ENST00000691410.1:c.*1060C>A	ENSP00000508479.1:n.*1060C>A
ENST00000693287.1:c.799C>A	ENSP00000510264.1:p.Pro267Thr
ENST00000693681.1:c.796C>A	ENSP00000510789.1:p.Pro266Thr
ENST00000233838.9:c.1483C>A MANE Select	ENSP00000233838.3:p.Pro495Thr
ENST00000233838.8:c.1483C>A	ENSP00000233838.3:p.Pro495Thr
ENST00000430215.7:c.1312C>A	ENSP00000408045.3:p.Pro438Thr
ENST00000465637.5:n.179-3934C>A
NM_000821.5:c.1483C>A	NP_000812.2:p.Pro495Thr
NM_000821.6:c.1483C>A	NP_000812.2:p.Pro495Thr
NM_001142269.2:c.1312C>A	NP_001135741.1:p.Pro438Thr
NM_001142269.3:c.1312C>A	NP_001135741.1:p.Pro438Thr
XM_005264259.3:c.1483C>A	XP_005264316.1:p.Pro495Thr
XM_011532764.1:c.661C>A	XP_011531066.1:p.Pro221Thr
XM_011532765.1:c.661C>A	XP_011531067.1:p.Pro221Thr
XR_939677.1:n.1396C>A
XM_005264259.5:c.1483C>A	XP_005264316.1:p.Pro495Thr
XM_011532764.3:c.661C>A	XP_011531066.1:p.Pro221Thr
XM_011532765.3:c.661C>A	XP_011531067.1:p.Pro221Thr
XM_017003803.2:c.1312C>A	XP_016859292.1:p.Pro438Thr
XR_001738703.2:n.1396C>A
NM_000821.7:c.1483C>A MANE Select	NP_000812.2:p.Pro495Thr
NM_001142269.4:c.1312C>A	NP_001135741.1:p.Pro438Thr