Canonical Allele Identifier: CA368223917
Gene: COL1A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1404738
ClinVar RCV Id: RCV001901796
dbSNP Id: rs2115940948
MyVariant Identifiers: chr7:g.94052296G>A (hg19) chr7:g.94422984G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94422984G>A , CM000669.2:g.94422984G>A GRCh38
NC_000007.13:g.94052296G>A , CM000669.1:g.94052296G>A GRCh37
NC_000007.12:g.93890232G>A NCBI36
NG_007405.1:g.33424G>A , LRG_2:g.33424G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.2431G>A MANE Select ENSP00000297268.6:p.Gly811Ser
ENST00000297268.10:c.2431G>A ENSP00000297268.6:p.Gly811Ser
ENST00000481570.5:n.514G>A
ENST00000497316.5:n.828G>A
ENST00000620463.1:c.2425G>A ENSP00000477719.1:p.Gly809Ser
NM_000089.3:c.2431G>A , LRG_2t1:c.2431G>A NP_000080.2:p.Gly811Ser
NM_000089.4:c.2431G>A MANE Select NP_000080.2:p.Gly811Ser
Search 100 bp 5'
Search 100 bp 3'