Canonical Allele Identifier: CA2683773810
Gene: COL1A2 HGNC NCBI

Linked Data

gnomAD v4: 7-94426590-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94426590G>C , CM000669.2:g.94426590G>C GRCh38
NC_000007.13:g.94055902G>C , CM000669.1:g.94055902G>C GRCh37
NC_000007.12:g.93893838G>C NCBI36
NG_007405.1:g.37030G>C , LRG_2:g.37030G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.3105+60G>C MANE Select ENSP00000297268.6:n.3105+60G>C
ENST00000297268.10:c.3105+60G>C ENSP00000297268.6:n.3105+60G>C
ENST00000478215.1:n.724G>C
ENST00000481570.5:n.3138G>C
ENST00000488121.1:n.21+60G>C
ENST00000620463.1:c.3099+60G>C ENSP00000477719.1:n.3099+60G>C
NM_000089.3:c.3105+60G>C , LRG_2t1:c.3105+60G>C NP_000080.2:n.3105+60G>C
NM_000089.4:c.3105+60G>C MANE Select NP_000080.2:n.3105+60G>C
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