Canonical Allele Identifier: CA368220500
Gene: COL1A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 909660
ClinVar RCV Id: RCV001160863 RCV001160864 RCV002558527
dbSNP Id: rs1584318648
MyVariant Identifiers: chr7:g.94038119G>C (hg19) chr7:g.94408807G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94408807G>C , CM000669.2:g.94408807G>C GRCh38
NC_000007.13:g.94038119G>C , CM000669.1:g.94038119G>C GRCh37
NC_000007.12:g.93876055G>C NCBI36
NG_007405.1:g.19247G>C , LRG_2:g.19247G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000297268.11:c.776G>C MANE Select ENSP00000297268.6:p.Gly259Ala
ENST00000297268.10:c.776G>C ENSP00000297268.6:p.Gly259Ala
ENST00000620463.1:c.770G>C ENSP00000477719.1:p.Gly257Ala
NM_000089.3:c.776G>C , LRG_2t1:c.776G>C NP_000080.2:p.Gly259Ala
NM_000089.4:c.776G>C MANE Select NP_000080.2:p.Gly259Ala
Search 100 bp 5'
Search 100 bp 3'