Canonical Allele Identifier: CA456486227
Community Standard Title: NM_000089.4(COL1A2):c.114A>G (p.Arg38=)
Gene: COL1A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94399066A>G , CM000669.2:g.94399066A>G GRCh38
NC_000007.13:g.94028378A>G , CM000669.1:g.94028378A>G GRCh37
NC_000007.12:g.93866314A>G NCBI36
NG_007405.1:g.9506A>G , LRG_2:g.9506A>G

Transcript Alleles

HGVS Amino-acid Change
NM_000089.4:c.114A>G MANE Select NP_000080.2:p.Arg38=
ENST00000297268.11:c.114A>G MANE Select ENSP00000297268.6:p.Arg38=
NM_000089.3:c.114A>G , LRG_2t1:c.114A>G NP_000080.2:p.Arg38=
ENST00000297268.10:c.114A>G ENSP00000297268.6:p.Arg38=
ENST00000620463.1:c.108A>G ENSP00000477719.1:p.Arg36=