Canonical Allele Identifier: CA162908760
Gene: COL1A2 HGNC NCBI

Linked Data

dbSNP Id: rs745596805
gnomAD v2: 7-94031005-G-A
gnomAD v3: 7-94401693-G-A
gnomAD v4: 7-94401693-G-A
MyVariant Identifiers: chr7:g.94031005G>A (hg19) chr7:g.94031005_94031006delinsAC (hg19) chr7:g.94401693G>A (hg38) chr7:g.94401693_94401694delinsAC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94401693G>A , CM000669.2:g.94401693G>A GRCh38
NC_000007.13:g.94031005G>A , CM000669.1:g.94031005G>A GRCh37
NC_000007.12:g.93868941G>A NCBI36
NG_007405.1:g.12133G>A , LRG_2:g.12133G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.279+73G>A MANE Select ENSP00000297268.6:n.279+73G>A
ENST00000297268.10:c.279+73G>A ENSP00000297268.6:n.279+73G>A
ENST00000620463.1:c.273+73G>A ENSP00000477719.1:n.273+73G>A
NM_000089.3:c.279+73G>A , LRG_2t1:c.279+73G>A NP_000080.2:n.279+73G>A
NM_000089.4:c.279+73G>A MANE Select NP_000080.2:n.279+73G>A
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