Canonical Allele Identifier: CA368222921
Gene: COL1A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1432462
ClinVar RCV Id: RCV001959874
dbSNP Id: rs781672171
gnomAD v4: 7-94417808-A-G
MyVariant Identifiers: chr7:g.94047120A>G (hg19) chr7:g.94417808A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94417808A>G , CM000669.2:g.94417808A>G GRCh38
NC_000007.13:g.94047120A>G , CM000669.1:g.94047120A>G GRCh37
NC_000007.12:g.93885056A>G NCBI36
NG_007405.1:g.28248A>G , LRG_2:g.28248A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000297268.11:c.1948A>G MANE Select ENSP00000297268.6:p.Ile650Val
ENST00000297268.10:c.1948A>G ENSP00000297268.6:p.Ile650Val
ENST00000461525.5:n.37A>G
ENST00000473573.5:n.285A>G
ENST00000497316.5:n.345A>G
ENST00000620463.1:c.1942A>G ENSP00000477719.1:p.Ile648Val
NM_000089.3:c.1948A>G , LRG_2t1:c.1948A>G NP_000080.2:p.Ile650Val
NM_000089.4:c.1948A>G MANE Select NP_000080.2:p.Ile650Val
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