Canonical Allele Identifier: CA368225193
Gene: COL1A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94426490T>A , CM000669.2:g.94426490T>A GRCh38
NC_000007.13:g.94055802T>A , CM000669.1:g.94055802T>A GRCh37
NC_000007.12:g.93893738T>A NCBI36
NG_007405.1:g.36930T>A , LRG_2:g.36930T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.3065T>A MANE Select ENSP00000297268.6:p.Leu1022Ter
ENST00000297268.10:c.3065T>A ENSP00000297268.6:p.Leu1022Ter
ENST00000478215.1:n.624T>A
ENST00000481570.5:n.3038T>A
ENST00000620463.1:c.3059T>A ENSP00000477719.1:p.Leu1020Ter
NM_000089.3:c.3065T>A , LRG_2t1:c.3065T>A NP_000080.2:p.Leu1022Ter
NM_000089.4:c.3065T>A MANE Select NP_000080.2:p.Leu1022Ter