Canonical Allele Identifier: CA651752739
Gene: COL1A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94404797G>C , CM000669.2:g.94404797G>C GRCh38
NC_000007.13:g.94034109G>C , CM000669.1:g.94034109G>C GRCh37
NC_000007.12:g.93872045G>C NCBI36
NG_007405.1:g.15237G>C , LRG_2:g.15237G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000297268.11:c.379-42G>C MANE Select ENSP00000297268.6:n.379-42G>C
ENST00000297268.10:c.379-42G>C ENSP00000297268.6:n.379-42G>C
ENST00000620463.1:c.373-42G>C ENSP00000477719.1:n.373-42G>C
NM_000089.3:c.379-42G>C , LRG_2t1:c.379-42G>C NP_000080.2:n.379-42G>C
NM_000089.4:c.379-42G>C MANE Select NP_000080.2:n.379-42G>C