Canonical Allele Identifier: CA213000
Gene: COL1A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 17277
ClinVar RCV Id: RCV000018818
dbSNP Id: rs72659324
MyVariant Identifiers: chr7:g.94055844T>C (hg19) chr7:g.94426532T>C (hg38)
PubMed: PMID:11288717
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94426532T>C , CM000669.2:g.94426532T>C GRCh38
NC_000007.13:g.94055844T>C , CM000669.1:g.94055844T>C GRCh37
NC_000007.12:g.93893780T>C NCBI36
NG_007405.1:g.36972T>C , LRG_2:g.36972T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000297268.11:c.3105+2T>C MANE Select ENSP00000297268.6:n.3105+2T>C
ENST00000297268.10:c.3105+2T>C ENSP00000297268.6:n.3105+2T>C
ENST00000478215.1:n.666T>C
ENST00000481570.5:n.3080T>C
ENST00000488121.1:n.21+2T>C
ENST00000620463.1:c.3099+2T>C ENSP00000477719.1:n.3099+2T>C
NM_000089.3:c.3105+2T>C , LRG_2t1:c.3105+2T>C NP_000080.2:n.3105+2T>C
NM_000089.4:c.3105+2T>C MANE Select NP_000080.2:n.3105+2T>C
Search 100 bp 5'
Search 100 bp 3'