Canonical Allele Identifier: CA576324501
Gene: COL1A2 HGNC NCBI

Linked Data

dbSNP Id: rs1247289837
gnomAD v2: 7-94055929-C-A
gnomAD v3: 7-94426617-C-A
gnomAD v4: 7-94426617-C-A
MyVariant Identifiers: chr7:g.94055929C>A (hg19) chr7:g.94426617C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94426617C>A , CM000669.2:g.94426617C>A GRCh38
NC_000007.13:g.94055929C>A , CM000669.1:g.94055929C>A GRCh37
NC_000007.12:g.93893865C>A NCBI36
NG_007405.1:g.37057C>A , LRG_2:g.37057C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.3105+87C>A MANE Select ENSP00000297268.6:n.3105+87C>A
ENST00000297268.10:c.3105+87C>A ENSP00000297268.6:n.3105+87C>A
ENST00000478215.1:n.751C>A
ENST00000481570.5:n.3165C>A
ENST00000488121.1:n.21+87C>A
ENST00000620463.1:c.3099+87C>A ENSP00000477719.1:n.3099+87C>A
NM_000089.3:c.3105+87C>A , LRG_2t1:c.3105+87C>A NP_000080.2:n.3105+87C>A
NM_000089.4:c.3105+87C>A MANE Select NP_000080.2:n.3105+87C>A
Search 100 bp 5'
Search 100 bp 3'