Canonical Allele Identifier: CA368220282
Gene: COL1A2 HGNC NCBI

Linked Data

gnomAD v4: 7-94408214-G-C
MyVariant Identifiers: chr7:g.94037526G>C (hg19) chr7:g.94408214G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94408214G>C , CM000669.2:g.94408214G>C GRCh38
NC_000007.13:g.94037526G>C , CM000669.1:g.94037526G>C GRCh37
NC_000007.12:g.93875462G>C NCBI36
NG_007405.1:g.18654G>C , LRG_2:g.18654G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.671G>C MANE Select ENSP00000297268.6:p.Arg224Pro
ENST00000297268.10:c.671G>C ENSP00000297268.6:p.Arg224Pro
ENST00000620463.1:c.665G>C ENSP00000477719.1:p.Arg222Pro
NM_000089.3:c.671G>C , LRG_2t1:c.671G>C NP_000080.2:p.Arg224Pro
NM_000089.4:c.671G>C MANE Select NP_000080.2:p.Arg224Pro
Search 100 bp 5'
Search 100 bp 3'