Canonical Allele Identifier: CA2580778531

Gene: COL1A2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.94426573G>C , CM000669.2:g.94426573G>C	GRCh38
NC_000007.13:g.94055885G>C , CM000669.1:g.94055885G>C	GRCh37
NC_000007.12:g.93893821G>C	NCBI36
NG_007405.1:g.37013G>C , LRG_2:g.37013G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297268.11:c.3105+43G>C MANE Select	ENSP00000297268.6:n.3105+43G>C
ENST00000297268.10:c.3105+43G>C	ENSP00000297268.6:n.3105+43G>C
ENST00000478215.1:n.707G>C
ENST00000481570.5:n.3121G>C
ENST00000488121.1:n.21+43G>C
ENST00000620463.1:c.3099+43G>C	ENSP00000477719.1:n.3099+43G>C
NM_000089.3:c.3105+43G>C , LRG_2t1:c.3105+43G>C	NP_000080.2:n.3105+43G>C
NM_000089.4:c.3105+43G>C MANE Select	NP_000080.2:n.3105+43G>C