Canonical Allele Identifier: CA1104604077

Gene: COL1A2

Linked Data

• dbSNP Id: rs1791681075
• gnomAD v3: 7-94401213-T-C
• gnomAD v4: 7-94401213-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.94401213T>C , CM000669.2:g.94401213T>C	GRCh38
NC_000007.13:g.94030525T>C , CM000669.1:g.94030525T>C	GRCh37
NC_000007.12:g.93868461T>C	NCBI36
NG_007405.1:g.11653T>C , LRG_2:g.11653T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297268.11:c.226-354T>C MANE Select	ENSP00000297268.6:n.226-354T>C
ENST00000297268.10:c.226-354T>C	ENSP00000297268.6:n.226-354T>C
ENST00000620463.1:c.220-354T>C	ENSP00000477719.1:n.220-354T>C
NM_000089.3:c.226-354T>C , LRG_2t1:c.226-354T>C	NP_000080.2:n.226-354T>C
NM_000089.4:c.226-354T>C MANE Select	NP_000080.2:n.226-354T>C