Canonical Allele Identifier: CA368223872
Gene: COL1A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 638318
ClinVar RCV Id: RCV000790932 RCV000791086 RCV000791087 RCV000791088 RCV001268104
dbSNP Id: rs1562906013
MyVariant Identifiers: chr7:g.94052270G>T (hg19) chr7:g.94422958G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94422958G>T , CM000669.2:g.94422958G>T GRCh38
NC_000007.13:g.94052270G>T , CM000669.1:g.94052270G>T GRCh37
NC_000007.12:g.93890206G>T NCBI36
NG_007405.1:g.33398G>T , LRG_2:g.33398G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.2405G>T MANE Select ENSP00000297268.6:p.Gly802Val
ENST00000297268.10:c.2405G>T ENSP00000297268.6:p.Gly802Val
ENST00000481570.5:n.488G>T
ENST00000497316.5:n.802G>T
ENST00000620463.1:c.2399G>T ENSP00000477719.1:p.Gly800Val
NM_000089.3:c.2405G>T , LRG_2t1:c.2405G>T NP_000080.2:p.Gly802Val
NM_000089.4:c.2405G>T MANE Select NP_000080.2:p.Gly802Val
Search 100 bp 5'
Search 100 bp 3'