Canonical Allele Identifier: CA1726783505

Gene: COL1A2

Linked Data

• dbSNP Id: rs1792284320
• gnomAD v4: 7-94426630-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.94426630T>C , CM000669.2:g.94426630T>C	GRCh38
NC_000007.13:g.94055942T>C , CM000669.1:g.94055942T>C	GRCh37
NC_000007.12:g.93893878T>C	NCBI36
NG_007405.1:g.37070T>C , LRG_2:g.37070T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297268.11:c.3105+100T>C MANE Select	ENSP00000297268.6:n.3105+100T>C
ENST00000297268.10:c.3105+100T>C	ENSP00000297268.6:n.3105+100T>C
ENST00000478215.1:n.764T>C
ENST00000481570.5:n.3178T>C
ENST00000488121.1:n.21+100T>C
ENST00000620463.1:c.3099+100T>C	ENSP00000477719.1:n.3099+100T>C
NM_000089.3:c.3105+100T>C , LRG_2t1:c.3105+100T>C	NP_000080.2:n.3105+100T>C
NM_000089.4:c.3105+100T>C MANE Select	NP_000080.2:n.3105+100T>C