Canonical Allele Identifier: CA4346601
Gene: COL1A2 HGNC NCBI

Linked Data

dbSNP Id: rs763254263
ExAC: 7:94030957 C / CA
gnomAD v2: 7-94030957-C-CA
gnomAD v3: 7-94401645-C-CA
gnomAD v4: 7-94401645-C-CA
MyVariant Identifiers: chr7:g.94030958_94030959insA (hg19) chr7:g.94030957_94030958insA (hg19) chr7:g.94401646_94401647insA (hg38) chr7:g.94401645_94401646insA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94401652dup , CM000669.2:g.94401652dup GRCh38
NC_000007.13:g.94030964dup , CM000669.1:g.94030964dup GRCh37
NC_000007.12:g.93868900dup NCBI36
NG_007405.1:g.12092dup , LRG_2:g.12092dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.279+32dup MANE Select ENSP00000297268.6:n.279+32dup
ENST00000297268.10:c.279+32dup ENSP00000297268.6:n.279+32dup
ENST00000620463.1:c.273+32dup ENSP00000477719.1:n.273+32dup
NM_000089.3:c.279+32dup , LRG_2t1:c.279+32dup NP_000080.2:n.279+32dup
NM_000089.4:c.279+32dup MANE Select NP_000080.2:n.279+32dup
Search 100 bp 5'
Search 100 bp 3'