Canonical Allele Identifier: CA1726792179
Gene: COL1A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94404640A= , CM000669.2:g.94404640A= GRCh38
NC_000007.13:g.94033952A= , CM000669.1:g.94033952A= GRCh37
NC_000007.12:g.93871888A= NCBI36
NG_007405.1:g.15080A= , LRG_2:g.15080A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.324+40A= MANE Select ENSP00000297268.6:n.324+40A=
ENST00000297268.10:c.324+40A= ENSP00000297268.6:n.324+40A=
ENST00000620463.1:c.318+40A= ENSP00000477719.1:n.318+40A=
NM_000089.3:c.324+40A= , LRG_2t1:c.324+40A= NP_000080.2:n.324+40A=
NM_000089.4:c.324+40A= MANE Select NP_000080.2:n.324+40A=