Canonical Allele Identifier: CA368219471
Gene: COL1A2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.94033893C>A (hg19) chr7:g.94404581C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94404581C>A , CM000669.2:g.94404581C>A GRCh38
NC_000007.13:g.94033893C>A , CM000669.1:g.94033893C>A GRCh37
NC_000007.12:g.93871829C>A NCBI36
NG_007405.1:g.15021C>A , LRG_2:g.15021C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.305C>A MANE Select ENSP00000297268.6:p.Pro102His
ENST00000297268.10:c.305C>A ENSP00000297268.6:p.Pro102His
ENST00000620463.1:c.299C>A ENSP00000477719.1:p.Pro100His
NM_000089.3:c.305C>A , LRG_2t1:c.305C>A NP_000080.2:p.Pro102His
NM_000089.4:c.305C>A MANE Select NP_000080.2:p.Pro102His
Search 100 bp 5'
Search 100 bp 3'