Canonical Allele Identifier: CA2683773773
Gene: COL1A2 HGNC NCBI

Linked Data

gnomAD v4: 7-94426416-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94426416T>G , CM000669.2:g.94426416T>G GRCh38
NC_000007.13:g.94055728T>G , CM000669.1:g.94055728T>G GRCh37
NC_000007.12:g.93893664T>G NCBI36
NG_007405.1:g.36856T>G , LRG_2:g.36856T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.2998-7T>G MANE Select ENSP00000297268.6:n.2998-7T>G
ENST00000297268.10:c.2998-7T>G ENSP00000297268.6:n.2998-7T>G
ENST00000478215.1:n.557-7T>G
ENST00000481570.5:n.2971-7T>G
ENST00000620463.1:c.2992-7T>G ENSP00000477719.1:n.2992-7T>G
NM_000089.3:c.2998-7T>G , LRG_2t1:c.2998-7T>G NP_000080.2:n.2998-7T>G
NM_000089.4:c.2998-7T>G MANE Select NP_000080.2:n.2998-7T>G
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