Canonical Allele Identifier: CA4346643
Gene: COL1A2 HGNC NCBI

Linked Data

dbSNP Id: rs766373669
ExAC: 7:94034085 TAA / T
gnomAD v2: 7-94034085-TAA-T
gnomAD v3: 7-94404773-TAA-T
gnomAD v4: 7-94404773-TAA-T
MyVariant Identifiers: chr7:g.94034086_94034087del (hg19) chr7:g.94404774_94404775del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94404774_94404775del , CM000669.2:g.94404774_94404775del GRCh38
NC_000007.13:g.94034086_94034087del , CM000669.1:g.94034086_94034087del GRCh37
NC_000007.12:g.93872022_93872023del NCBI36
NG_007405.1:g.15214_15215del , LRG_2:g.15214_15215del

Transcript Alleles

HGVS Amino-acid change
ENST00000297268.11:c.378+28_378+29del MANE Select ENSP00000297268.6:n.378+28_378+29del
ENST00000297268.10:c.378+28_378+29del ENSP00000297268.6:n.378+28_378+29del
ENST00000620463.1:c.372+28_372+29del ENSP00000477719.1:n.372+28_372+29del
NM_000089.3:c.378+28_378+29del , LRG_2t1:c.378+28_378+29del NP_000080.2:n.378+28_378+29del
NM_000089.4:c.378+28_378+29del MANE Select NP_000080.2:n.378+28_378+29del
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