Canonical Allele Identifier: CA4347659
Gene: COL1A2 HGNC NCBI

Linked Data

dbSNP Id: rs753243834
ExAC: 7:94055865 G / A
gnomAD v2: 7-94055865-G-A
gnomAD v3: 7-94426553-G-A
gnomAD v4: 7-94426553-G-A
MyVariant Identifiers: chr7:g.94055865G>A (hg19) chr7:g.94426553G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94426553G>A , CM000669.2:g.94426553G>A GRCh38
NC_000007.13:g.94055865G>A , CM000669.1:g.94055865G>A GRCh37
NC_000007.12:g.93893801G>A NCBI36
NG_007405.1:g.36993G>A , LRG_2:g.36993G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.3105+23G>A MANE Select ENSP00000297268.6:n.3105+23G>A
ENST00000297268.10:c.3105+23G>A ENSP00000297268.6:n.3105+23G>A
ENST00000478215.1:n.687G>A
ENST00000481570.5:n.3101G>A
ENST00000488121.1:n.21+23G>A
ENST00000620463.1:c.3099+23G>A ENSP00000477719.1:n.3099+23G>A
NM_000089.3:c.3105+23G>A , LRG_2t1:c.3105+23G>A NP_000080.2:n.3105+23G>A
NM_000089.4:c.3105+23G>A MANE Select NP_000080.2:n.3105+23G>A
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