Canonical Allele Identifier: CA162919507
Gene: COL1A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2123270
ClinVar RCV Id: RCV003054994
dbSNP Id: rs944942328
gnomAD v4: 7-94409324-T-A
MyVariant Identifiers: chr7:g.94038636T>A (hg19) chr7:g.94409324T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94409324T>A , CM000669.2:g.94409324T>A GRCh38
NC_000007.13:g.94038636T>A , CM000669.1:g.94038636T>A GRCh37
NC_000007.12:g.93876572T>A NCBI36
NG_007405.1:g.19764T>A , LRG_2:g.19764T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000297268.11:c.795T>A MANE Select ENSP00000297268.6:p.Gly265=
ENST00000297268.10:c.795T>A ENSP00000297268.6:p.Gly265=
ENST00000620463.1:c.789T>A ENSP00000477719.1:p.Gly263=
NM_000089.3:c.795T>A , LRG_2t1:c.795T>A NP_000080.2:p.Gly265=
NM_000089.4:c.795T>A MANE Select NP_000080.2:p.Gly265=
Search 100 bp 5'
Search 100 bp 3'