Canonical Allele Identifier: CA368222909
Gene: COL1A2 HGNC NCBI

Linked Data

gnomAD v4: 7-94417802-G-A
MyVariant Identifiers: chr7:g.94047114G>A (hg19) chr7:g.94417802G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94417802G>A , CM000669.2:g.94417802G>A GRCh38
NC_000007.13:g.94047114G>A , CM000669.1:g.94047114G>A GRCh37
NC_000007.12:g.93885050G>A NCBI36
NG_007405.1:g.28242G>A , LRG_2:g.28242G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000297268.11:c.1942G>A MANE Select ENSP00000297268.6:p.Ala648Thr
ENST00000297268.10:c.1942G>A ENSP00000297268.6:p.Ala648Thr
ENST00000461525.5:n.31G>A
ENST00000473573.5:n.279G>A
ENST00000497316.5:n.339G>A
ENST00000620463.1:c.1936G>A ENSP00000477719.1:p.Ala646Thr
NM_000089.3:c.1942G>A , LRG_2t1:c.1942G>A NP_000080.2:p.Ala648Thr
NM_000089.4:c.1942G>A MANE Select NP_000080.2:p.Ala648Thr
Search 100 bp 5'
Search 100 bp 3'