Canonical Allele Identifier: CA162940273
Gene: COL1A2 HGNC NCBI

Linked Data

dbSNP Id: rs536224806
gnomAD v3: 7-94426229-T-C
gnomAD v4: 7-94426229-T-C
MyVariant Identifiers: chr7:g.94055541T>C (hg19) chr7:g.94426229T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94426229T>C , CM000669.2:g.94426229T>C GRCh38
NC_000007.13:g.94055541T>C , CM000669.1:g.94055541T>C GRCh37
NC_000007.12:g.93893477T>C NCBI36
NG_007405.1:g.36669T>C , LRG_2:g.36669T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.2997+178T>C MANE Select ENSP00000297268.6:n.2997+178T>C
ENST00000297268.10:c.2997+178T>C ENSP00000297268.6:n.2997+178T>C
ENST00000478215.1:n.556+178T>C
ENST00000481570.5:n.2970+178T>C
ENST00000620463.1:c.2991+178T>C ENSP00000477719.1:n.2991+178T>C
NM_000089.3:c.2997+178T>C , LRG_2t1:c.2997+178T>C NP_000080.2:n.2997+178T>C
NM_000089.4:c.2997+178T>C MANE Select NP_000080.2:n.2997+178T>C
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