Canonical Allele Identifier: CA162937884
Gene: COL1A2 HGNC NCBI

Linked Data

dbSNP Id: rs144041957
gnomAD v3: 7-94422837-G-T
gnomAD v4: 7-94422837-G-T
MyVariant Identifiers: chr7:g.94052149G>T (hg19) chr7:g.94422837G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94422837G>T , CM000669.2:g.94422837G>T GRCh38
NC_000007.13:g.94052149G>T , CM000669.1:g.94052149G>T GRCh37
NC_000007.12:g.93890085G>T NCBI36
NG_007405.1:g.33277G>T , LRG_2:g.33277G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.2404-120G>T MANE Select ENSP00000297268.6:n.2404-120G>T
ENST00000297268.10:c.2404-120G>T ENSP00000297268.6:n.2404-120G>T
ENST00000481570.5:n.367G>T
ENST00000497316.5:n.801-120G>T
ENST00000620463.1:c.2398-120G>T ENSP00000477719.1:n.2398-120G>T
NM_000089.3:c.2404-120G>T , LRG_2t1:c.2404-120G>T NP_000080.2:n.2404-120G>T
NM_000089.4:c.2404-120G>T MANE Select NP_000080.2:n.2404-120G>T
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