Canonical Allele Identifier: CA4347662
Gene: COL1A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 675066
ClinVar RCV Id: RCV000834401
dbSNP Id: rs62464631
ExAC: 7:94055885 G / A
gnomAD v2: 7-94055885-G-A
gnomAD v3: 7-94426573-G-A
gnomAD v4: 7-94426573-G-A
MyVariant Identifiers: chr7:g.94055885G>A (hg19) chr7:g.94426573G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94426573G>A , CM000669.2:g.94426573G>A GRCh38
NC_000007.13:g.94055885G>A , CM000669.1:g.94055885G>A GRCh37
NC_000007.12:g.93893821G>A NCBI36
NG_007405.1:g.37013G>A , LRG_2:g.37013G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.3105+43G>A MANE Select ENSP00000297268.6:n.3105+43G>A
ENST00000297268.10:c.3105+43G>A ENSP00000297268.6:n.3105+43G>A
ENST00000478215.1:n.707G>A
ENST00000481570.5:n.3121G>A
ENST00000488121.1:n.21+43G>A
ENST00000620463.1:c.3099+43G>A ENSP00000477719.1:n.3099+43G>A
NM_000089.3:c.3105+43G>A , LRG_2t1:c.3105+43G>A NP_000080.2:n.3105+43G>A
NM_000089.4:c.3105+43G>A MANE Select NP_000080.2:n.3105+43G>A
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