Canonical Allele Identifier: CA4347183
Gene: COL1A2 HGNC NCBI

Linked Data

dbSNP Id: rs761396432
ExAC: 7:94044497 T / A
gnomAD v2: 7-94044497-T-A
gnomAD v4: 7-94415185-T-A
MyVariant Identifiers: chr7:g.94044497T>A (hg19) chr7:g.94044497_94044499delinsACA (hg19) chr7:g.94415185T>A (hg38) chr7:g.94415185_94415187delinsACA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94415185T>A , CM000669.2:g.94415185T>A GRCh38
NC_000007.13:g.94044497T>A , CM000669.1:g.94044497T>A GRCh37
NC_000007.12:g.93882433T>A NCBI36
NG_007405.1:g.25625T>A , LRG_2:g.25625T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000297268.11:c.1720-41T>A MANE Select ENSP00000297268.6:n.1720-41T>A
ENST00000297268.10:c.1720-41T>A ENSP00000297268.6:n.1720-41T>A
ENST00000473573.5:n.57-41T>A
ENST00000488298.5:n.144-41T>A
ENST00000620463.1:c.1714-41T>A ENSP00000477719.1:n.1714-41T>A
NM_000089.3:c.1720-41T>A , LRG_2t1:c.1720-41T>A NP_000080.2:n.1720-41T>A
NM_000089.4:c.1720-41T>A MANE Select NP_000080.2:n.1720-41T>A
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