Canonical Allele Identifier: CA368222914
Gene: COL1A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1935129
ClinVar RCV Id: RCV002622981
dbSNP Id: rs1470335240
gnomAD v2: 7-94047115-C-T
gnomAD v4: 7-94417803-C-T
MyVariant Identifiers: chr7:g.94047115C>T (hg19) chr7:g.94417803C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94417803C>T , CM000669.2:g.94417803C>T GRCh38
NC_000007.13:g.94047115C>T , CM000669.1:g.94047115C>T GRCh37
NC_000007.12:g.93885051C>T NCBI36
NG_007405.1:g.28243C>T , LRG_2:g.28243C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000297268.11:c.1943C>T MANE Select ENSP00000297268.6:p.Ala648Val
ENST00000297268.10:c.1943C>T ENSP00000297268.6:p.Ala648Val
ENST00000461525.5:n.32C>T
ENST00000473573.5:n.280C>T
ENST00000497316.5:n.340C>T
ENST00000620463.1:c.1937C>T ENSP00000477719.1:p.Ala646Val
NM_000089.3:c.1943C>T , LRG_2t1:c.1943C>T NP_000080.2:p.Ala648Val
NM_000089.4:c.1943C>T MANE Select NP_000080.2:p.Ala648Val
Search 100 bp 5'
Search 100 bp 3'