Canonical Allele Identifier: CA843996770
Gene: COL1A2 HGNC NCBI

Linked Data

dbSNP Id: rs1431297137
gnomAD v3: 7-94401243-T-C
gnomAD v4: 7-94401243-T-C
MyVariant Identifiers: chr7:g.94030555T>C (hg19) chr7:g.94401243T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94401243T>C , CM000669.2:g.94401243T>C GRCh38
NC_000007.13:g.94030555T>C , CM000669.1:g.94030555T>C GRCh37
NC_000007.12:g.93868491T>C NCBI36
NG_007405.1:g.11683T>C , LRG_2:g.11683T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.226-324T>C MANE Select ENSP00000297268.6:n.226-324T>C
ENST00000297268.10:c.226-324T>C ENSP00000297268.6:n.226-324T>C
ENST00000620463.1:c.220-324T>C ENSP00000477719.1:n.220-324T>C
NM_000089.3:c.226-324T>C , LRG_2t1:c.226-324T>C NP_000080.2:n.226-324T>C
NM_000089.4:c.226-324T>C MANE Select NP_000080.2:n.226-324T>C
Search 100 bp 5'
Search 100 bp 3'