Canonical Allele Identifier: CA368225063
Gene: COL1A2 HGNC NCBI

Linked Data

gnomAD v4: 7-94426424-G-T
MyVariant Identifiers: chr7:g.94055736G>T (hg19) chr7:g.94426424G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94426424G>T , CM000669.2:g.94426424G>T GRCh38
NC_000007.13:g.94055736G>T , CM000669.1:g.94055736G>T GRCh37
NC_000007.12:g.93893672G>T NCBI36
NG_007405.1:g.36864G>T , LRG_2:g.36864G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.2999G>T MANE Select ENSP00000297268.6:p.Gly1000Val
ENST00000297268.10:c.2999G>T ENSP00000297268.6:p.Gly1000Val
ENST00000478215.1:n.558G>T
ENST00000481570.5:n.2972G>T
ENST00000620463.1:c.2993G>T ENSP00000477719.1:p.Gly998Val
NM_000089.3:c.2999G>T , LRG_2t1:c.2999G>T NP_000080.2:p.Gly1000Val
NM_000089.4:c.2999G>T MANE Select NP_000080.2:p.Gly1000Val
Search 100 bp 5'
Search 100 bp 3'