Canonical Allele Identifier: CA1726771737
Community Standard Title: NM_000089.4(COL1A2):c.2080G= (p.Gly694=)
Gene: COL1A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94420233G= , CM000669.2:g.94420233G= GRCh38
NC_000007.13:g.94049545G= , CM000669.1:g.94049545G= GRCh37
NC_000007.12:g.93887481G= NCBI36
NG_007405.1:g.30673G= , LRG_2:g.30673G=

Transcript Alleles

HGVS Amino-acid Change
NM_000089.4:c.2080G= MANE Select NP_000080.2:p.Gly694=
ENST00000297268.11:c.2080G= MANE Select ENSP00000297268.6:p.Gly694=
NM_000089.3:c.2080G= , LRG_2t1:c.2080G= NP_000080.2:p.Gly694=
ENST00000297268.10:c.2080G= ENSP00000297268.6:p.Gly694=
ENST00000461525.5:n.169G=
ENST00000467931.1:n.100G=
ENST00000473573.5:n.417G=
ENST00000497316.5:n.477G=
ENST00000620463.1:c.2074G= ENSP00000477719.1:p.Gly692=