Canonical Allele Identifier: CA1726783095
Gene: COL1A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94426425C= , CM000669.2:g.94426425C= GRCh38
NC_000007.13:g.94055737C= , CM000669.1:g.94055737C= GRCh37
NC_000007.12:g.93893673C= NCBI36
NG_007405.1:g.36865C= , LRG_2:g.36865C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.3000C= MANE Select ENSP00000297268.6:p.Gly1000=
ENST00000297268.10:c.3000C= ENSP00000297268.6:p.Gly1000=
ENST00000478215.1:n.559C=
ENST00000481570.5:n.2973C=
ENST00000620463.1:c.2994C= ENSP00000477719.1:p.Gly998=
NM_000089.3:c.3000C= , LRG_2t1:c.3000C= NP_000080.2:p.Gly1000=
NM_000089.4:c.3000C= MANE Select NP_000080.2:p.Gly1000=