Canonical Allele Identifier: CA2683767099
Gene: COL1A2 HGNC NCBI

Linked Data

gnomAD v4: 7-94404674-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94404674C>G , CM000669.2:g.94404674C>G GRCh38
NC_000007.13:g.94033986C>G , CM000669.1:g.94033986C>G GRCh37
NC_000007.12:g.93871922C>G NCBI36
NG_007405.1:g.15114C>G , LRG_2:g.15114C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.325-19C>G MANE Select ENSP00000297268.6:n.325-19C>G
ENST00000297268.10:c.325-19C>G ENSP00000297268.6:n.325-19C>G
ENST00000620463.1:c.319-19C>G ENSP00000477719.1:n.319-19C>G
NM_000089.3:c.325-19C>G , LRG_2t1:c.325-19C>G NP_000080.2:n.325-19C>G
NM_000089.4:c.325-19C>G MANE Select NP_000080.2:n.325-19C>G