Canonical Allele Identifier: CA162930336
Gene: COL1A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 425650
ClinVar RCV Id: RCV000490755 RCV002279260 RCV002481546
dbSNP Id: rs72658150
gnomAD v3: 7-94417797-G-T
gnomAD v4: 7-94417797-G-T
MyVariant Identifiers: chr7:g.94047109G>T (hg19) chr7:g.94417797G>T (hg38)
PubMed: PMID:25944380
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94417797G>T , CM000669.2:g.94417797G>T GRCh38
NC_000007.13:g.94047109G>T , CM000669.1:g.94047109G>T GRCh37
NC_000007.12:g.93885045G>T NCBI36
NG_007405.1:g.28237G>T , LRG_2:g.28237G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000297268.11:c.1937G>T MANE Select ENSP00000297268.6:p.Gly646Val
ENST00000297268.10:c.1937G>T ENSP00000297268.6:p.Gly646Val
ENST00000461525.5:n.26G>T
ENST00000473573.5:n.274G>T
ENST00000497316.5:n.334G>T
ENST00000620463.1:c.1931G>T ENSP00000477719.1:p.Gly644Val
NM_000089.3:c.1937G>T , LRG_2t1:c.1937G>T NP_000080.2:p.Gly646Val
NM_000089.4:c.1937G>T MANE Select NP_000080.2:p.Gly646Val
Search 100 bp 5'
Search 100 bp 3'