Canonical Allele Identifier: CA368219333
Gene: COL1A2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.94030896T>A (hg19) chr7:g.94401584T>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94401584T>A , CM000669.2:g.94401584T>A GRCh38
NC_000007.13:g.94030896T>A , CM000669.1:g.94030896T>A GRCh37
NC_000007.12:g.93868832T>A NCBI36
NG_007405.1:g.12024T>A , LRG_2:g.12024T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.243T>A MANE Select ENSP00000297268.6:p.Tyr81Ter
ENST00000297268.10:c.243T>A ENSP00000297268.6:p.Tyr81Ter
ENST00000620463.1:c.237T>A ENSP00000477719.1:p.Tyr79Ter
NM_000089.3:c.243T>A , LRG_2t1:c.243T>A NP_000080.2:p.Tyr81Ter
NM_000089.4:c.243T>A MANE Select NP_000080.2:p.Tyr81Ter
Search 100 bp 5'
Search 100 bp 3'