Canonical Allele Identifier: CA368219377
Gene: COL1A2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.94030916T>A (hg19) chr7:g.94401604T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94401604T>A , CM000669.2:g.94401604T>A GRCh38
NC_000007.13:g.94030916T>A , CM000669.1:g.94030916T>A GRCh37
NC_000007.12:g.93868852T>A NCBI36
NG_007405.1:g.12044T>A , LRG_2:g.12044T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.263T>A MANE Select ENSP00000297268.6:p.Leu88His
ENST00000297268.10:c.263T>A ENSP00000297268.6:p.Leu88His
ENST00000620463.1:c.257T>A ENSP00000477719.1:p.Leu86His
NM_000089.3:c.263T>A , LRG_2t1:c.263T>A NP_000080.2:p.Leu88His
NM_000089.4:c.263T>A MANE Select NP_000080.2:p.Leu88His
Search 100 bp 5'
Search 100 bp 3'