Canonical Allele Identifier: CA1726767469
Community Standard Title: NM_000089.4(COL1A2):c.1878G= (p.Val626=)
Gene: COL1A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94417738G= , CM000669.2:g.94417738G= GRCh38
NC_000007.13:g.94047050G= , CM000669.1:g.94047050G= GRCh37
NC_000007.12:g.93884986G= NCBI36
NG_007405.1:g.28178G= , LRG_2:g.28178G=

Transcript Alleles

HGVS Amino-acid Change
NM_000089.4:c.1878G= MANE Select NP_000080.2:p.Val626=
ENST00000297268.11:c.1878G= MANE Select ENSP00000297268.6:p.Val626=
NM_000089.3:c.1878G= , LRG_2t1:c.1878G= NP_000080.2:p.Val626=
ENST00000297268.10:c.1878G= ENSP00000297268.6:p.Val626=
ENST00000473573.5:n.215G=
ENST00000497316.5:n.275G=
ENST00000620463.1:c.1872G= ENSP00000477719.1:p.Val624=