Canonical Allele Identifier: CA368223958
Gene: COL1A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1508459
ClinVar RCV Id: RCV002016120
dbSNP Id: rs2115941022
MyVariant Identifiers: chr7:g.94052314G>T (hg19) chr7:g.94423002G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94423002G>T , CM000669.2:g.94423002G>T GRCh38
NC_000007.13:g.94052314G>T , CM000669.1:g.94052314G>T GRCh37
NC_000007.12:g.93890250G>T NCBI36
NG_007405.1:g.33442G>T , LRG_2:g.33442G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.2449G>T MANE Select ENSP00000297268.6:p.Gly817Trp
ENST00000297268.10:c.2449G>T ENSP00000297268.6:p.Gly817Trp
ENST00000481570.5:n.532G>T
ENST00000497316.5:n.846G>T
ENST00000620463.1:c.2443G>T ENSP00000477719.1:p.Gly815Trp
NM_000089.3:c.2449G>T , LRG_2t1:c.2449G>T NP_000080.2:p.Gly817Trp
NM_000089.4:c.2449G>T MANE Select NP_000080.2:p.Gly817Trp
Search 100 bp 5'
Search 100 bp 3'