Canonical Allele Identifier: CA1726785443
Community Standard Title: NM_000089.4(COL1A2):c.3269G= (p.Gly1090=)
Gene: COL1A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94427628G= , CM000669.2:g.94427628G= GRCh38
NC_000007.13:g.94056940G= , CM000669.1:g.94056940G= GRCh37
NC_000007.12:g.93894876G= NCBI36
NG_007405.1:g.38068G= , LRG_2:g.38068G=

Transcript Alleles

HGVS Amino-acid Change
NM_000089.4:c.3269G= MANE Select NP_000080.2:p.Gly1090=
ENST00000297268.11:c.3269G= MANE Select ENSP00000297268.6:p.Gly1090=
NM_000089.3:c.3269G= , LRG_2t1:c.3269G= NP_000080.2:p.Gly1090=
ENST00000297268.10:c.3269G= ENSP00000297268.6:p.Gly1090=
ENST00000464916.1:n.317G=
ENST00000481570.5:n.4050G=
ENST00000620463.1:c.3263G= ENSP00000477719.1:p.Gly1088=