Canonical Allele Identifier: CA162914040
Gene: COL1A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 964625
ClinVar RCV Id: RCV001507697 RCV002241624
dbSNP Id: rs1026230498
gnomAD v2: 7-94033875-T-A
gnomAD v4: 7-94404563-T-A
MyVariant Identifiers: chr7:g.94033875T>A (hg19) chr7:g.94404563T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94404563T>A , CM000669.2:g.94404563T>A GRCh38
NC_000007.13:g.94033875T>A , CM000669.1:g.94033875T>A GRCh37
NC_000007.12:g.93871811T>A NCBI36
NG_007405.1:g.15003T>A , LRG_2:g.15003T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.287T>A MANE Select ENSP00000297268.6:p.Met96Lys
ENST00000297268.10:c.287T>A ENSP00000297268.6:p.Met96Lys
ENST00000620463.1:c.281T>A ENSP00000477719.1:p.Met94Lys
NM_000089.3:c.287T>A , LRG_2t1:c.287T>A NP_000080.2:p.Met96Lys
NM_000089.4:c.287T>A MANE Select NP_000080.2:p.Met96Lys
Search 100 bp 5'
Search 100 bp 3'