Canonical Allele Identifier: CA1726790747
Gene: COL1A2 HGNC NCBI

Linked Data

dbSNP Id: rs1791681848

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94401266A>T , CM000669.2:g.94401266A>T GRCh38
NC_000007.13:g.94030578A>T , CM000669.1:g.94030578A>T GRCh37
NC_000007.12:g.93868514A>T NCBI36
NG_007405.1:g.11706A>T , LRG_2:g.11706A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.226-301A>T MANE Select ENSP00000297268.6:n.226-301A>T
ENST00000297268.10:c.226-301A>T ENSP00000297268.6:n.226-301A>T
ENST00000620463.1:c.220-301A>T ENSP00000477719.1:n.220-301A>T
NM_000089.3:c.226-301A>T , LRG_2t1:c.226-301A>T NP_000080.2:n.226-301A>T
NM_000089.4:c.226-301A>T MANE Select NP_000080.2:n.226-301A>T