Canonical Allele Identifier: CA4346616
Gene: COL1A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 580339
ClinVar RCV Id: RCV002232956
dbSNP Id: rs765868569
ExAC: 7:94033880 C / T
gnomAD v2: 7-94033880-C-T
gnomAD v3: 7-94404568-C-T
gnomAD v4: 7-94404568-C-T
MyVariant Identifiers: chr7:g.94033880C>T (hg19) chr7:g.94404568C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94404568C>T , CM000669.2:g.94404568C>T GRCh38
NC_000007.13:g.94033880C>T , CM000669.1:g.94033880C>T GRCh37
NC_000007.12:g.93871816C>T NCBI36
NG_007405.1:g.15008C>T , LRG_2:g.15008C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.292C>T MANE Select ENSP00000297268.6:p.Pro98Ser
ENST00000297268.10:c.292C>T ENSP00000297268.6:p.Pro98Ser
ENST00000620463.1:c.286C>T ENSP00000477719.1:p.Pro96Ser
NM_000089.3:c.292C>T , LRG_2t1:c.292C>T NP_000080.2:p.Pro98Ser
NM_000089.4:c.292C>T MANE Select NP_000080.2:p.Pro98Ser
Search 100 bp 5'
Search 100 bp 3'