Canonical Allele Identifier: CA4347638

Gene: COL1A2

Linked Data

• dbSNP Id: rs759969551
• ExAC: 7:94055708 C / T
• gnomAD v2: 7-94055708-C-T
• gnomAD v3: 7-94426396-C-T
• gnomAD v4: 7-94426396-C-T
• MyVariant Identifiers: chr7:g.94055708C>T (hg19) ; chr7:g.94426396C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.94426396C>T , CM000669.2:g.94426396C>T	GRCh38
NC_000007.13:g.94055708C>T , CM000669.1:g.94055708C>T	GRCh37
NC_000007.12:g.93893644C>T	NCBI36
NG_007405.1:g.36836C>T , LRG_2:g.36836C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297268.11:c.2998-27C>T MANE Select	ENSP00000297268.6:n.2998-27C>T
ENST00000297268.10:c.2998-27C>T	ENSP00000297268.6:n.2998-27C>T
ENST00000478215.1:n.557-27C>T
ENST00000481570.5:n.2971-27C>T
ENST00000620463.1:c.2992-27C>T	ENSP00000477719.1:n.2992-27C>T
NM_000089.3:c.2998-27C>T , LRG_2t1:c.2998-27C>T	NP_000080.2:n.2998-27C>T
NM_000089.4:c.2998-27C>T MANE Select	NP_000080.2:n.2998-27C>T