Canonical Allele Identifier: CA576324491
Gene: COL1A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2184893
ClinVar RCV Id: RCV002632350
dbSNP Id: rs1473769757
gnomAD v2: 7-94055858-C-T
gnomAD v4: 7-94426546-C-T
MyVariant Identifiers: chr7:g.94055858C>T (hg19) chr7:g.94426546C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94426546C>T , CM000669.2:g.94426546C>T GRCh38
NC_000007.13:g.94055858C>T , CM000669.1:g.94055858C>T GRCh37
NC_000007.12:g.93893794C>T NCBI36
NG_007405.1:g.36986C>T , LRG_2:g.36986C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.3105+16C>T MANE Select ENSP00000297268.6:n.3105+16C>T
ENST00000297268.10:c.3105+16C>T ENSP00000297268.6:n.3105+16C>T
ENST00000478215.1:n.680C>T
ENST00000481570.5:n.3094C>T
ENST00000488121.1:n.21+16C>T
ENST00000620463.1:c.3099+16C>T ENSP00000477719.1:n.3099+16C>T
NM_000089.3:c.3105+16C>T , LRG_2t1:c.3105+16C>T NP_000080.2:n.3105+16C>T
NM_000089.4:c.3105+16C>T MANE Select NP_000080.2:n.3105+16C>T
Search 100 bp 5'
Search 100 bp 3'