Canonical Allele Identifier: CA368219686
Gene: COL1A2 HGNC NCBI

Linked Data

gnomAD v4: 7-94404863-G-C
MyVariant Identifiers: chr7:g.94034175G>C (hg19) chr7:g.94404863G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94404863G>C , CM000669.2:g.94404863G>C GRCh38
NC_000007.13:g.94034175G>C , CM000669.1:g.94034175G>C GRCh37
NC_000007.12:g.93872111G>C NCBI36
NG_007405.1:g.15303G>C , LRG_2:g.15303G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.403G>C MANE Select ENSP00000297268.6:p.Ala135Pro
ENST00000297268.10:c.403G>C ENSP00000297268.6:p.Ala135Pro
ENST00000620463.1:c.397G>C ENSP00000477719.1:p.Ala133Pro
NM_000089.3:c.403G>C , LRG_2t1:c.403G>C NP_000080.2:p.Ala135Pro
NM_000089.4:c.403G>C MANE Select NP_000080.2:p.Ala135Pro
Search 100 bp 5'
Search 100 bp 3'