Canonical Allele Identifier: CA1726783421
Gene: COL1A2 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94426582C= , CM000669.2:g.94426582C= GRCh38
NC_000007.13:g.94055894C= , CM000669.1:g.94055894C= GRCh37
NC_000007.12:g.93893830C= NCBI36
NG_007405.1:g.37022C= , LRG_2:g.37022C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.3105+52C= MANE Select ENSP00000297268.6:n.3105+52C=
ENST00000297268.10:c.3105+52C= ENSP00000297268.6:n.3105+52C=
ENST00000478215.1:n.716C=
ENST00000481570.5:n.3130C=
ENST00000488121.1:n.21+52C=
ENST00000620463.1:c.3099+52C= ENSP00000477719.1:n.3099+52C=
NM_000089.3:c.3105+52C= , LRG_2t1:c.3105+52C= NP_000080.2:n.3105+52C=
NM_000089.4:c.3105+52C= MANE Select NP_000080.2:n.3105+52C=
Search 100 bp 5'
Search 100 bp 3'