Canonical Allele Identifier: CA368222924
Gene: COL1A2 HGNC NCBI

Linked Data

gnomAD v4: 7-94417809-T-C
MyVariant Identifiers: chr7:g.94047121T>C (hg19) chr7:g.94417809T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94417809T>C , CM000669.2:g.94417809T>C GRCh38
NC_000007.13:g.94047121T>C , CM000669.1:g.94047121T>C GRCh37
NC_000007.12:g.93885057T>C NCBI36
NG_007405.1:g.28249T>C , LRG_2:g.28249T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000297268.11:c.1949T>C MANE Select ENSP00000297268.6:p.Ile650Thr
ENST00000297268.10:c.1949T>C ENSP00000297268.6:p.Ile650Thr
ENST00000461525.5:n.38T>C
ENST00000473573.5:n.286T>C
ENST00000497316.5:n.346T>C
ENST00000620463.1:c.1943T>C ENSP00000477719.1:p.Ile648Thr
NM_000089.3:c.1949T>C , LRG_2t1:c.1949T>C NP_000080.2:p.Ile650Thr
NM_000089.4:c.1949T>C MANE Select NP_000080.2:p.Ile650Thr
Search 100 bp 5'
Search 100 bp 3'