Canonical Allele Identifier: CA368222906
Gene: COL1A2 HGNC NCBI

Linked Data

gnomAD v4: 7-94417800-C-A
MyVariant Identifiers: chr7:g.94047112C>A (hg19) chr7:g.94417800C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94417800C>A , CM000669.2:g.94417800C>A GRCh38
NC_000007.13:g.94047112C>A , CM000669.1:g.94047112C>A GRCh37
NC_000007.12:g.93885048C>A NCBI36
NG_007405.1:g.28240C>A , LRG_2:g.28240C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000297268.11:c.1940C>A MANE Select ENSP00000297268.6:p.Ala647Asp
ENST00000297268.10:c.1940C>A ENSP00000297268.6:p.Ala647Asp
ENST00000461525.5:n.29C>A
ENST00000473573.5:n.277C>A
ENST00000497316.5:n.337C>A
ENST00000620463.1:c.1934C>A ENSP00000477719.1:p.Ala645Asp
NM_000089.3:c.1940C>A , LRG_2t1:c.1940C>A NP_000080.2:p.Ala647Asp
NM_000089.4:c.1940C>A MANE Select NP_000080.2:p.Ala647Asp
Search 100 bp 5'
Search 100 bp 3'