Canonical Allele Identifier: CA368224150
Gene: COL1A2 HGNC NCBI

Linked Data

dbSNP Id: rs1288784071
gnomAD v2: 7-94052418-G-T
gnomAD v4: 7-94423106-G-T
MyVariant Identifiers: chr7:g.94052418G>T (hg19) chr7:g.94423106G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94423106G>T , CM000669.2:g.94423106G>T GRCh38
NC_000007.13:g.94052418G>T , CM000669.1:g.94052418G>T GRCh37
NC_000007.12:g.93890354G>T NCBI36
NG_007405.1:g.33546G>T , LRG_2:g.33546G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.2553G>T MANE Select ENSP00000297268.6:p.Glu851Asp
ENST00000297268.10:c.2553G>T ENSP00000297268.6:p.Glu851Asp
ENST00000481570.5:n.636G>T
ENST00000497316.5:n.950G>T
ENST00000620463.1:c.2547G>T ENSP00000477719.1:p.Glu849Asp
NM_000089.3:c.2553G>T , LRG_2t1:c.2553G>T NP_000080.2:p.Glu851Asp
NM_000089.4:c.2553G>T MANE Select NP_000080.2:p.Glu851Asp
Search 100 bp 5'
Search 100 bp 3'