Canonical Allele Identifier: CA1726757073
Community Standard Title: NM_000089.4(COL1A2):c.1404+1G=
Gene: COL1A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94412122G= , CM000669.2:g.94412122G= GRCh38
NC_000007.13:g.94041434G= , CM000669.1:g.94041434G= GRCh37
NC_000007.12:g.93879370G= NCBI36
NG_007405.1:g.22562G= , LRG_2:g.22562G=

Transcript Alleles

HGVS Amino-acid Change
NM_000089.4:c.1404+1G= MANE Select NP_000080.2:n.1404+1G=
ENST00000297268.11:c.1404+1G= MANE Select ENSP00000297268.6:n.1404+1G=
NM_000089.3:c.1404+1G= , LRG_2t1:c.1404+1G= NP_000080.2:n.1404+1G=
ENST00000297268.10:c.1404+1G= ENSP00000297268.6:n.1404+1G=
ENST00000620463.1:c.1398+1G= ENSP00000477719.1:n.1398+1G=