Canonical Allele Identifier: CA1741806

Gene: GGCX

Linked Data

• dbSNP Id: rs760208257
• ExAC: 2:85779093 G / A
• gnomAD v2: 2-85779093-G-A
• gnomAD v3: 2-85551970-G-A
• gnomAD v4: 2-85551970-G-A
• MyVariant Identifiers: chr2:g.85779093G>A (hg19) ; chr2:g.85551970G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85551970G>A , CM000664.2:g.85551970G>A	GRCh38
NC_000002.11:g.85779093G>A , CM000664.1:g.85779093G>A	GRCh37
NC_000002.10:g.85632604G>A	NCBI36
NG_011811.2:g.14565C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000473665.2:n.5929C>T
ENST00000482662.2:n.4336C>T
ENST00000685865.1:n.2288C>T
ENST00000687250.1:n.1988C>T
ENST00000687995.1:n.1803C>T
ENST00000688205.1:c.*1044C>T	ENSP00000509673.1:n.*1044C>T
ENST00000688788.1:n.1690C>T
ENST00000689276.1:c.1382C>T	ENSP00000510012.1:p.Pro461Leu
ENST00000689576.1:c.*70C>T	ENSP00000508712.1:n.*70C>T
ENST00000690108.1:c.*1107C>T	ENSP00000510617.1:n.*1107C>T
ENST00000690468.1:c.*3C>T	ENSP00000509078.1:n.*3C>T
ENST00000690595.1:c.776C>T	ENSP00000508979.1:p.Pro259Leu
ENST00000691348.1:c.*3C>T	ENSP00000509369.1:n.*3C>T
ENST00000691410.1:c.*1028C>T	ENSP00000508479.1:n.*1028C>T
ENST00000693287.1:c.767C>T	ENSP00000510264.1:p.Pro256Leu
ENST00000693681.1:c.764C>T	ENSP00000510789.1:p.Pro255Leu
ENST00000233838.9:c.1451C>T MANE Select	ENSP00000233838.3:p.Pro484Leu
ENST00000233838.8:c.1451C>T	ENSP00000233838.3:p.Pro484Leu
ENST00000430215.7:c.1280C>T	ENSP00000408045.3:p.Pro427Leu
ENST00000465637.5:n.179-3966C>T
NM_000821.5:c.1451C>T	NP_000812.2:p.Pro484Leu
NM_000821.6:c.1451C>T	NP_000812.2:p.Pro484Leu
NM_001142269.2:c.1280C>T	NP_001135741.1:p.Pro427Leu
NM_001142269.3:c.1280C>T	NP_001135741.1:p.Pro427Leu
XM_005264259.3:c.1451C>T	XP_005264316.1:p.Pro484Leu
XM_011532764.1:c.629C>T	XP_011531066.1:p.Pro210Leu
XM_011532765.1:c.629C>T	XP_011531067.1:p.Pro210Leu
XR_939677.1:n.1364C>T
XM_005264259.5:c.1451C>T	XP_005264316.1:p.Pro484Leu
XM_011532764.3:c.629C>T	XP_011531066.1:p.Pro210Leu
XM_011532765.3:c.629C>T	XP_011531067.1:p.Pro210Leu
XM_017003803.2:c.1280C>T	XP_016859292.1:p.Pro427Leu
XR_001738703.2:n.1364C>T
NM_000821.7:c.1451C>T MANE Select	NP_000812.2:p.Pro484Leu
NM_001142269.4:c.1280C>T	NP_001135741.1:p.Pro427Leu