Canonical Allele Identifier: CA368220288
Gene: COL1A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1480365
ClinVar RCV Id: RCV002022049 RCV002221696 RCV002370649
dbSNP Id: rs1210318478
gnomAD v3: 7-94408217-T-C
gnomAD v4: 7-94408217-T-C
MyVariant Identifiers: chr7:g.94037529T>C (hg19) chr7:g.94408217T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94408217T>C , CM000669.2:g.94408217T>C GRCh38
NC_000007.13:g.94037529T>C , CM000669.1:g.94037529T>C GRCh37
NC_000007.12:g.93875465T>C NCBI36
NG_007405.1:g.18657T>C , LRG_2:g.18657T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000297268.11:c.674T>C MANE Select ENSP00000297268.6:p.Val225Ala
ENST00000297268.10:c.674T>C ENSP00000297268.6:p.Val225Ala
ENST00000620463.1:c.668T>C ENSP00000477719.1:p.Val223Ala
NM_000089.3:c.674T>C , LRG_2t1:c.674T>C NP_000080.2:p.Val225Ala
NM_000089.4:c.674T>C MANE Select NP_000080.2:p.Val225Ala
Search 100 bp 5'
Search 100 bp 3'