Canonical Allele Identifier: CA1726792873
Gene: COL1A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94406295G= , CM000669.2:g.94406295G= GRCh38
NC_000007.13:g.94035607G= , CM000669.1:g.94035607G= GRCh37
NC_000007.12:g.93873543G= NCBI36
NG_007405.1:g.16735G= , LRG_2:g.16735G=

Transcript Alleles

HGVS Amino-acid Change
NM_000089.4:c.586G= MANE Select NP_000080.2:p.Gly196=
ENST00000297268.11:c.586G= MANE Select ENSP00000297268.6:p.Gly196=
NM_000089.3:c.586G= , LRG_2t1:c.586G= NP_000080.2:p.Gly196=
ENST00000297268.10:c.586G= ENSP00000297268.6:p.Gly196=
ENST00000620463.1:c.580G= ENSP00000477719.1:p.Gly194=