Canonical Allele Identifier: CA1726790751
Gene: COL1A2 HGNC NCBI

Linked Data

dbSNP Id: rs1562897882

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94401280G>T , CM000669.2:g.94401280G>T GRCh38
NC_000007.13:g.94030592G>T , CM000669.1:g.94030592G>T GRCh37
NC_000007.12:g.93868528G>T NCBI36
NG_007405.1:g.11720G>T , LRG_2:g.11720G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.226-287G>T MANE Select ENSP00000297268.6:n.226-287G>T
ENST00000297268.10:c.226-287G>T ENSP00000297268.6:n.226-287G>T
ENST00000620463.1:c.220-287G>T ENSP00000477719.1:n.220-287G>T
NM_000089.3:c.226-287G>T , LRG_2t1:c.226-287G>T NP_000080.2:n.226-287G>T
NM_000089.4:c.226-287G>T MANE Select NP_000080.2:n.226-287G>T