Canonical Allele Identifier: CA576324402
Gene: COL1A2 HGNC NCBI

Linked Data

dbSNP Id: rs1299467537
gnomAD v2: 7-94055536-G-A
gnomAD v3: 7-94426224-G-A
gnomAD v4: 7-94426224-G-A
MyVariant Identifiers: chr7:g.94055536G>A (hg19) chr7:g.94426224G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94426224G>A , CM000669.2:g.94426224G>A GRCh38
NC_000007.13:g.94055536G>A , CM000669.1:g.94055536G>A GRCh37
NC_000007.12:g.93893472G>A NCBI36
NG_007405.1:g.36664G>A , LRG_2:g.36664G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.2997+173G>A MANE Select ENSP00000297268.6:n.2997+173G>A
ENST00000297268.10:c.2997+173G>A ENSP00000297268.6:n.2997+173G>A
ENST00000478215.1:n.556+173G>A
ENST00000481570.5:n.2970+173G>A
ENST00000620463.1:c.2991+173G>A ENSP00000477719.1:n.2991+173G>A
NM_000089.3:c.2997+173G>A , LRG_2t1:c.2997+173G>A NP_000080.2:n.2997+173G>A
NM_000089.4:c.2997+173G>A MANE Select NP_000080.2:n.2997+173G>A
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