Canonical Allele Identifier: CA4346767
Gene: COL1A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 679609
ClinVar RCV Id: RCV000839296 RCV003975354 RCV003169067 RCV002234380
dbSNP Id: rs375401215
ExAC: 7:94037534 G / A
gnomAD v2: 7-94037534-G-A
gnomAD v3: 7-94408222-G-A
gnomAD v4: 7-94408222-G-A
MyVariant Identifiers: chr7:g.94037534G>A (hg19) chr7:g.94408222G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94408222G>A , CM000669.2:g.94408222G>A GRCh38
NC_000007.13:g.94037534G>A , CM000669.1:g.94037534G>A GRCh37
NC_000007.12:g.93875470G>A NCBI36
NG_007405.1:g.18662G>A , LRG_2:g.18662G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.679G>A MANE Select ENSP00000297268.6:p.Ala227Thr
ENST00000297268.10:c.679G>A ENSP00000297268.6:p.Ala227Thr
ENST00000620463.1:c.673G>A ENSP00000477719.1:p.Ala225Thr
NM_000089.3:c.679G>A , LRG_2t1:c.679G>A NP_000080.2:p.Ala227Thr
NM_000089.4:c.679G>A MANE Select NP_000080.2:p.Ala227Thr
Search 100 bp 5'
Search 100 bp 3'