Canonical Allele Identifier: CA1726761078
Community Standard Title: NM_000089.4(COL1A2):c.1640G= (p.Gly547=)
Gene: COL1A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94413922G= , CM000669.2:g.94413922G= GRCh38
NC_000007.13:g.94043234G= , CM000669.1:g.94043234G= GRCh37
NC_000007.12:g.93881170G= NCBI36
NG_007405.1:g.24362G= , LRG_2:g.24362G=

Transcript Alleles

HGVS Amino-acid Change
NM_000089.4:c.1640G= MANE Select NP_000080.2:p.Gly547=
ENST00000297268.11:c.1640G= MANE Select ENSP00000297268.6:p.Gly547=
NM_000089.3:c.1640G= , LRG_2t1:c.1640G= NP_000080.2:p.Gly547=
ENST00000297268.10:c.1640G= ENSP00000297268.6:p.Gly547=
ENST00000488298.5:n.64G=
ENST00000620463.1:c.1634G= ENSP00000477719.1:p.Gly545=