Canonical Allele Identifier: CA2834975928

Gene: COL1A2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.94401296C>A , CM000669.2:g.94401296C>A	GRCh38
NC_000007.13:g.94030608C>A , CM000669.1:g.94030608C>A	GRCh37
NC_000007.12:g.93868544C>A	NCBI36
NG_007405.1:g.11736C>A , LRG_2:g.11736C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297268.11:c.226-271C>A MANE Select	ENSP00000297268.6:n.226-271C>A
ENST00000297268.10:c.226-271C>A	ENSP00000297268.6:n.226-271C>A
ENST00000620463.1:c.220-271C>A	ENSP00000477719.1:n.220-271C>A
NM_000089.3:c.226-271C>A , LRG_2t1:c.226-271C>A	NP_000080.2:n.226-271C>A
NM_000089.4:c.226-271C>A MANE Select	NP_000080.2:n.226-271C>A