Canonical Allele Identifier: CA4347187
Gene: COL1A2 HGNC NCBI

Linked Data

dbSNP Id: rs766321471
ExAC: 7:94044506 G / A
gnomAD v2: 7-94044506-G-A
gnomAD v4: 7-94415194-G-A
MyVariant Identifiers: chr7:g.94044506G>A (hg19) chr7:g.94415194G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94415194G>A , CM000669.2:g.94415194G>A GRCh38
NC_000007.13:g.94044506G>A , CM000669.1:g.94044506G>A GRCh37
NC_000007.12:g.93882442G>A NCBI36
NG_007405.1:g.25634G>A , LRG_2:g.25634G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.1720-32G>A MANE Select ENSP00000297268.6:n.1720-32G>A
ENST00000297268.10:c.1720-32G>A ENSP00000297268.6:n.1720-32G>A
ENST00000473573.5:n.57-32G>A
ENST00000488298.5:n.144-32G>A
ENST00000620463.1:c.1714-32G>A ENSP00000477719.1:n.1714-32G>A
NM_000089.3:c.1720-32G>A , LRG_2t1:c.1720-32G>A NP_000080.2:n.1720-32G>A
NM_000089.4:c.1720-32G>A MANE Select NP_000080.2:n.1720-32G>A
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