Canonical Allele Identifier: CA1726790765

Gene: COL1A2

Linked Data

• dbSNP Id: rs1256212288

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.94401315G>T , CM000669.2:g.94401315G>T	GRCh38
NC_000007.13:g.94030627G>T , CM000669.1:g.94030627G>T	GRCh37
NC_000007.12:g.93868563G>T	NCBI36
NG_007405.1:g.11755G>T , LRG_2:g.11755G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297268.11:c.226-252G>T MANE Select	ENSP00000297268.6:n.226-252G>T
ENST00000297268.10:c.226-252G>T	ENSP00000297268.6:n.226-252G>T
ENST00000620463.1:c.220-252G>T	ENSP00000477719.1:n.220-252G>T
NM_000089.3:c.226-252G>T , LRG_2t1:c.226-252G>T	NP_000080.2:n.226-252G>T
NM_000089.4:c.226-252G>T MANE Select	NP_000080.2:n.226-252G>T