Canonical Allele Identifier: CA1726783250
Gene: COL1A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94426487G= , CM000669.2:g.94426487G= GRCh38
NC_000007.13:g.94055799G= , CM000669.1:g.94055799G= GRCh37
NC_000007.12:g.93893735G= NCBI36
NG_007405.1:g.36927G= , LRG_2:g.36927G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.3062G= MANE Select ENSP00000297268.6:p.Gly1021=
ENST00000297268.10:c.3062G= ENSP00000297268.6:p.Gly1021=
ENST00000478215.1:n.621G=
ENST00000481570.5:n.3035G=
ENST00000620463.1:c.3056G= ENSP00000477719.1:p.Gly1019=
NM_000089.3:c.3062G= , LRG_2t1:c.3062G= NP_000080.2:p.Gly1021=
NM_000089.4:c.3062G= MANE Select NP_000080.2:p.Gly1021=