Canonical Allele Identifier: CA456489176
Gene: COL1A2 HGNC NCBI

Linked Data

dbSNP Id: rs755307855
MyVariant Identifiers: chr7:g.94047119C>G (hg19) chr7:g.94417807C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94417807C>G , CM000669.2:g.94417807C>G GRCh38
NC_000007.13:g.94047119C>G , CM000669.1:g.94047119C>G GRCh37
NC_000007.12:g.93885055C>G NCBI36
NG_007405.1:g.28247C>G , LRG_2:g.28247C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000297268.11:c.1947C>G MANE Select ENSP00000297268.6:p.Gly649=
ENST00000297268.10:c.1947C>G ENSP00000297268.6:p.Gly649=
ENST00000461525.5:n.36C>G
ENST00000473573.5:n.284C>G
ENST00000497316.5:n.344C>G
ENST00000620463.1:c.1941C>G ENSP00000477719.1:p.Gly647=
NM_000089.3:c.1947C>G , LRG_2t1:c.1947C>G NP_000080.2:p.Gly649=
NM_000089.4:c.1947C>G MANE Select NP_000080.2:p.Gly649=
Search 100 bp 5'
Search 100 bp 3'