Canonical Allele Identifier: CA4347186
Gene: COL1A2 HGNC NCBI

Linked Data

dbSNP Id: rs750115793
ExAC: 7:94044504 C / T
gnomAD v2: 7-94044504-C-T
gnomAD v3: 7-94415192-C-T
gnomAD v4: 7-94415192-C-T
MyVariant Identifiers: chr7:g.94044504C>T (hg19) chr7:g.94415192C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94415192C>T , CM000669.2:g.94415192C>T GRCh38
NC_000007.13:g.94044504C>T , CM000669.1:g.94044504C>T GRCh37
NC_000007.12:g.93882440C>T NCBI36
NG_007405.1:g.25632C>T , LRG_2:g.25632C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.1720-34C>T MANE Select ENSP00000297268.6:n.1720-34C>T
ENST00000297268.10:c.1720-34C>T ENSP00000297268.6:n.1720-34C>T
ENST00000473573.5:n.57-34C>T
ENST00000488298.5:n.144-34C>T
ENST00000620463.1:c.1714-34C>T ENSP00000477719.1:n.1714-34C>T
NM_000089.3:c.1720-34C>T , LRG_2t1:c.1720-34C>T NP_000080.2:n.1720-34C>T
NM_000089.4:c.1720-34C>T MANE Select NP_000080.2:n.1720-34C>T
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