Canonical Allele Identifier: CA1726773336
Community Standard Title: NM_000089.4(COL1A2):c.2342G= (p.Gly781=)
Gene: COL1A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94421055G= , CM000669.2:g.94421055G= GRCh38
NC_000007.13:g.94050367G= , CM000669.1:g.94050367G= GRCh37
NC_000007.12:g.93888303G= NCBI36
NG_007405.1:g.31495G= , LRG_2:g.31495G=

Transcript Alleles

HGVS Amino-acid Change
NM_000089.4:c.2342G= MANE Select NP_000080.2:p.Gly781=
ENST00000297268.11:c.2342G= MANE Select ENSP00000297268.6:p.Gly781=
NM_000089.3:c.2342G= , LRG_2t1:c.2342G= NP_000080.2:p.Gly781=
ENST00000297268.10:c.2342G= ENSP00000297268.6:p.Gly781=
ENST00000461525.5:n.431G=
ENST00000473573.5:n.679G=
ENST00000497316.5:n.739G=
ENST00000620463.1:c.2336G= ENSP00000477719.1:p.Gly779=