Canonical Allele Identifier: CA368225067
Gene: COL1A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94426427C>G , CM000669.2:g.94426427C>G GRCh38
NC_000007.13:g.94055739C>G , CM000669.1:g.94055739C>G GRCh37
NC_000007.12:g.93893675C>G NCBI36
NG_007405.1:g.36867C>G , LRG_2:g.36867C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.3002C>G MANE Select ENSP00000297268.6:p.Pro1001Arg
ENST00000297268.10:c.3002C>G ENSP00000297268.6:p.Pro1001Arg
ENST00000478215.1:n.561C>G
ENST00000481570.5:n.2975C>G
ENST00000620463.1:c.2996C>G ENSP00000477719.1:p.Pro999Arg
NM_000089.3:c.3002C>G , LRG_2t1:c.3002C>G NP_000080.2:p.Pro1001Arg
NM_000089.4:c.3002C>G MANE Select NP_000080.2:p.Pro1001Arg