Canonical Allele Identifier: CA4346575
Gene: COL1A2 HGNC NCBI

Linked Data

dbSNP Id: rs747347938
ExAC: 7:94030855 A / AT
gnomAD v2: 7-94030855-A-AT
gnomAD v3: 7-94401543-A-AT
gnomAD v4: 7-94401543-A-AT
MyVariant Identifiers: chr7:g.94030855_94030856insT (hg19) chr7:g.94401543_94401544insT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94401543_94401544insT , CM000669.2:g.94401543_94401544insT GRCh38
NC_000007.13:g.94030855_94030856insT , CM000669.1:g.94030855_94030856insT GRCh37
NC_000007.12:g.93868791_93868792insT NCBI36
NG_007405.1:g.11983_11984insT , LRG_2:g.11983_11984insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.226-24_226-23insT MANE Select ENSP00000297268.6:n.226-24_226-23insT
ENST00000297268.10:c.226-24_226-23insT ENSP00000297268.6:n.226-24_226-23insT
ENST00000620463.1:c.220-24_220-23insT ENSP00000477719.1:n.220-24_220-23insT
NM_000089.3:c.226-24_226-23insT , LRG_2t1:c.226-24_226-23insT NP_000080.2:n.226-24_226-23insT
NM_000089.4:c.226-24_226-23insT MANE Select NP_000080.2:n.226-24_226-23insT
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