Canonical Allele Identifier: CA1726790977

Gene: COL1A2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.94401750C= , CM000669.2:g.94401750C=	GRCh38
NC_000007.13:g.94031062C= , CM000669.1:g.94031062C=	GRCh37
NC_000007.12:g.93868998C=	NCBI36
NG_007405.1:g.12190C= , LRG_2:g.12190C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297268.11:c.279+130C= MANE Select	ENSP00000297268.6:n.279+130C=
ENST00000297268.10:c.279+130C=	ENSP00000297268.6:n.279+130C=
ENST00000620463.1:c.273+130C=	ENSP00000477719.1:n.273+130C=
NM_000089.3:c.279+130C= , LRG_2t1:c.279+130C=	NP_000080.2:n.279+130C=
NM_000089.4:c.279+130C= MANE Select	NP_000080.2:n.279+130C=