Canonical Allele Identifier: CA1726793529
Gene: COL1A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94407722A= , CM000669.2:g.94407722A= GRCh38
NC_000007.13:g.94037034A= , CM000669.1:g.94037034A= GRCh37
NC_000007.12:g.93874970A= NCBI36
NG_007405.1:g.18162A= , LRG_2:g.18162A=

Transcript Alleles

HGVS Amino-acid Change
NM_000089.4:c.595-125A= MANE Select NP_000080.2:n.595-125A=
ENST00000297268.11:c.595-125A= MANE Select ENSP00000297268.6:n.595-125A=
NM_000089.3:c.595-125A= , LRG_2t1:c.595-125A= NP_000080.2:n.595-125A=
ENST00000297268.10:c.595-125A= ENSP00000297268.6:n.595-125A=
ENST00000620463.1:c.589-125A= ENSP00000477719.1:n.589-125A=