Canonical Allele Identifier: CA162940449

Gene: COL1A2

Linked Data

• dbSNP Id: rs150784697
• gnomAD v2: 7-94055935-T-C
• gnomAD v3: 7-94426623-T-C
• gnomAD v4: 7-94426623-T-C
• MyVariant Identifiers: chr7:g.94055935T>C (hg19) ; chr7:g.94426623T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.94426623T>C , CM000669.2:g.94426623T>C	GRCh38
NC_000007.13:g.94055935T>C , CM000669.1:g.94055935T>C	GRCh37
NC_000007.12:g.93893871T>C	NCBI36
NG_007405.1:g.37063T>C , LRG_2:g.37063T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297268.11:c.3105+93T>C MANE Select	ENSP00000297268.6:n.3105+93T>C
ENST00000297268.10:c.3105+93T>C	ENSP00000297268.6:n.3105+93T>C
ENST00000478215.1:n.757T>C
ENST00000481570.5:n.3171T>C
ENST00000488121.1:n.21+93T>C
ENST00000620463.1:c.3099+93T>C	ENSP00000477719.1:n.3099+93T>C
NM_000089.3:c.3105+93T>C , LRG_2t1:c.3105+93T>C	NP_000080.2:n.3105+93T>C
NM_000089.4:c.3105+93T>C MANE Select	NP_000080.2:n.3105+93T>C