Canonical Allele Identifier: CA4346587
Gene: COL1A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 254955
ClinVar RCV Id: RCV000251681 RCV000318261 RCV000375392 RCV001511007 RCV002450764
dbSNP Id: rs1800222
ExAC: 7:94030899 T / C
gnomAD v2: 7-94030899-T-C
gnomAD v3: 7-94401587-T-C
gnomAD v4: 7-94401587-T-C
MyVariant Identifiers: chr7:g.94030899T>C (hg19) chr7:g.94401587T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94401587T>C , CM000669.2:g.94401587T>C GRCh38
NC_000007.13:g.94030899T>C , CM000669.1:g.94030899T>C GRCh37
NC_000007.12:g.93868835T>C NCBI36
NG_007405.1:g.12027T>C , LRG_2:g.12027T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.246T>C MANE Select ENSP00000297268.6:p.Asp82=
ENST00000297268.10:c.246T>C ENSP00000297268.6:p.Asp82=
ENST00000620463.1:c.240T>C ENSP00000477719.1:p.Asp80=
NM_000089.3:c.246T>C , LRG_2t1:c.246T>C NP_000080.2:p.Asp82=
NM_000089.4:c.246T>C MANE Select NP_000080.2:p.Asp82=
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Search 100 bp 3'