Canonical Allele Identifier: CA1726792238
Gene: COL1A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94404790A= , CM000669.2:g.94404790A= GRCh38
NC_000007.13:g.94034102A= , CM000669.1:g.94034102A= GRCh37
NC_000007.12:g.93872038A= NCBI36
NG_007405.1:g.15230A= , LRG_2:g.15230A=

Transcript Alleles

HGVS Amino-acid change
ENST00000297268.11:c.378+44A= MANE Select ENSP00000297268.6:n.378+44A=
ENST00000297268.10:c.378+44A= ENSP00000297268.6:n.378+44A=
ENST00000620463.1:c.372+44A= ENSP00000477719.1:n.372+44A=
NM_000089.3:c.378+44A= , LRG_2t1:c.378+44A= NP_000080.2:n.378+44A=
NM_000089.4:c.378+44A= MANE Select NP_000080.2:n.378+44A=