Canonical Allele Identifier: CA534172131

Gene: GGCX

Linked Data

• dbSNP Id: rs1201502112
• gnomAD v2: 2-85775020-G-GTAGT
• gnomAD v3: 2-85547897-G-GTAGT
• gnomAD v4: 2-85547897-G-GTAGT
• MyVariant Identifiers: chr2:g.85775020_85775021insTAGT (hg19) ; chr2:g.85547897_85547898insTAGT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85547898_85547901dup , CM000664.2:g.85547898_85547901dup	GRCh38
NC_000002.11:g.85775021_85775024dup , CM000664.1:g.85775021_85775024dup	GRCh37
NC_000002.10:g.85628532_85628535dup	NCBI36
NG_011811.2:g.18634_18637dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000233838.9:c.*2033_*2036dup MANE Select	ENSP00000233838.3:n.*2033_*2036dup
ENST00000233838.8:c.*2033_*2036dup	ENSP00000233838.3:n.*2033_*2036dup
ENST00000465637.5:n.282_285dup
NM_000821.5:c.*2033_*2036dup	NP_000812.2:n.*2033_*2036dup
NM_000821.6:c.*2033_*2036dup	NP_000812.2:n.*2033_*2036dup
NM_001142269.2:c.*2033_*2036dup	NP_001135741.1:n.*2033_*2036dup
NM_001142269.3:c.*2033_*2036dup	NP_001135741.1:n.*2033_*2036dup
NM_000821.7:c.*2033_*2036dup MANE Select	NP_000812.2:n.*2033_*2036dup
NM_001142269.4:c.*2033_*2036dup	NP_001135741.1:n.*2033_*2036dup