Canonical Allele Identifier: CA844000786
Gene: COL1A2 HGNC NCBI

Linked Data

dbSNP Id: rs1469812031
gnomAD v3: 7-94422745-T-C
gnomAD v4: 7-94422745-T-C
MyVariant Identifiers: chr7:g.94052057T>C (hg19) chr7:g.94422745T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94422745T>C , CM000669.2:g.94422745T>C GRCh38
NC_000007.13:g.94052057T>C , CM000669.1:g.94052057T>C GRCh37
NC_000007.12:g.93889993T>C NCBI36
NG_007405.1:g.33185T>C , LRG_2:g.33185T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.2404-212T>C MANE Select ENSP00000297268.6:n.2404-212T>C
ENST00000297268.10:c.2404-212T>C ENSP00000297268.6:n.2404-212T>C
ENST00000481570.5:n.275T>C
ENST00000497316.5:n.801-212T>C
ENST00000620463.1:c.2398-212T>C ENSP00000477719.1:n.2398-212T>C
NM_000089.3:c.2404-212T>C , LRG_2t1:c.2404-212T>C NP_000080.2:n.2404-212T>C
NM_000089.4:c.2404-212T>C MANE Select NP_000080.2:n.2404-212T>C
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