Canonical Allele Identifier: CA1726757998
Gene: COL1A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94412593G= , CM000669.2:g.94412593G= GRCh38
NC_000007.13:g.94041905G= , CM000669.1:g.94041905G= GRCh37
NC_000007.12:g.93879841G= NCBI36
NG_007405.1:g.23033G= , LRG_2:g.23033G=

Transcript Alleles

HGVS Amino-acid Change
NM_000089.4:c.1414G= MANE Select NP_000080.2:p.Gly472=
ENST00000297268.11:c.1414G= MANE Select ENSP00000297268.6:p.Gly472=
NM_000089.3:c.1414G= , LRG_2t1:c.1414G= NP_000080.2:p.Gly472=
ENST00000297268.10:c.1414G= ENSP00000297268.6:p.Gly472=
ENST00000620463.1:c.1408G= ENSP00000477719.1:p.Gly470=