Canonical Allele Identifier: CA368220653
Gene: COL1A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2003579
ClinVar RCV Id: RCV002833276
MyVariant Identifiers: chr7:g.94038695T>C (hg19) chr7:g.94409383T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94409383T>C , CM000669.2:g.94409383T>C GRCh38
NC_000007.13:g.94038695T>C , CM000669.1:g.94038695T>C GRCh37
NC_000007.12:g.93876631T>C NCBI36
NG_007405.1:g.19823T>C , LRG_2:g.19823T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000297268.11:c.854T>C MANE Select ENSP00000297268.6:p.Val285Ala
ENST00000297268.10:c.854T>C ENSP00000297268.6:p.Val285Ala
ENST00000620463.1:c.848T>C ENSP00000477719.1:p.Val283Ala
NM_000089.3:c.854T>C , LRG_2t1:c.854T>C NP_000080.2:p.Val285Ala
NM_000089.4:c.854T>C MANE Select NP_000080.2:p.Val285Ala
Search 100 bp 5'
Search 100 bp 3'