Canonical Allele Identifier: CA347484738

Gene: GGCX

Linked Data

• gnomAD v4: 2-85551821-C-G
• MyVariant Identifiers: chr2:g.85778944C>G (hg19) ; chr2:g.85551821C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85551821C>G , CM000664.2:g.85551821C>G	GRCh38
NC_000002.11:g.85778944C>G , CM000664.1:g.85778944C>G	GRCh37
NC_000002.10:g.85632455C>G	NCBI36
NG_011811.2:g.14714G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000473665.2:n.6078G>C
ENST00000482662.2:n.4485G>C
ENST00000685865.1:n.2437G>C
ENST00000687250.1:n.2137G>C
ENST00000687995.1:n.1952G>C
ENST00000688205.1:c.*1193G>C	ENSP00000509673.1:n.*1193G>C
ENST00000688788.1:n.1839G>C
ENST00000689276.1:c.1531G>C	ENSP00000510012.1:p.Asp511His
ENST00000689576.1:c.*219G>C	ENSP00000508712.1:n.*219G>C
ENST00000690108.1:c.*1256G>C	ENSP00000510617.1:n.*1256G>C
ENST00000690468.1:c.*152G>C	ENSP00000509078.1:n.*152G>C
ENST00000690595.1:c.925G>C	ENSP00000508979.1:p.Asp309His
ENST00000691348.1:c.*152G>C	ENSP00000509369.1:n.*152G>C
ENST00000691410.1:c.*1177G>C	ENSP00000508479.1:n.*1177G>C
ENST00000693287.1:c.916G>C	ENSP00000510264.1:p.Asp306His
ENST00000693681.1:c.913G>C	ENSP00000510789.1:p.Asp305His
ENST00000233838.9:c.1600G>C MANE Select	ENSP00000233838.3:p.Asp534His
ENST00000233838.8:c.1600G>C	ENSP00000233838.3:p.Asp534His
ENST00000430215.7:c.1429G>C	ENSP00000408045.3:p.Asp477His
ENST00000465637.5:n.179-3817G>C
NM_000821.5:c.1600G>C	NP_000812.2:p.Asp534His
NM_000821.6:c.1600G>C	NP_000812.2:p.Asp534His
NM_001142269.2:c.1429G>C	NP_001135741.1:p.Asp477His
NM_001142269.3:c.1429G>C	NP_001135741.1:p.Asp477His
XM_005264259.3:c.1600G>C	XP_005264316.1:p.Asp534His
XM_011532764.1:c.778G>C	XP_011531066.1:p.Asp260His
XM_011532765.1:c.778G>C	XP_011531067.1:p.Asp260His
XR_939677.1:n.1513G>C
XM_005264259.5:c.1600G>C	XP_005264316.1:p.Asp534His
XM_011532764.3:c.778G>C	XP_011531066.1:p.Asp260His
XM_011532765.3:c.778G>C	XP_011531067.1:p.Asp260His
XM_017003803.2:c.1429G>C	XP_016859292.1:p.Asp477His
XR_001738703.2:n.1513G>C
NM_000821.7:c.1600G>C MANE Select	NP_000812.2:p.Asp534His
NM_001142269.4:c.1429G>C	NP_001135741.1:p.Asp477His