Canonical Allele Identifier: CA2776991274

Gene: COL1A2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.94401226C>G , CM000669.2:g.94401226C>G	GRCh38
NC_000007.13:g.94030538C>G , CM000669.1:g.94030538C>G	GRCh37
NC_000007.12:g.93868474C>G	NCBI36
NG_007405.1:g.11666C>G , LRG_2:g.11666C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297268.11:c.226-341C>G MANE Select	ENSP00000297268.6:n.226-341C>G
ENST00000297268.10:c.226-341C>G	ENSP00000297268.6:n.226-341C>G
ENST00000620463.1:c.220-341C>G	ENSP00000477719.1:n.220-341C>G
NM_000089.3:c.226-341C>G , LRG_2t1:c.226-341C>G	NP_000080.2:n.226-341C>G
NM_000089.4:c.226-341C>G MANE Select	NP_000080.2:n.226-341C>G