Canonical Allele Identifier: CA1726783574
Community Standard Title: NM_000089.4(COL1A2):c.3105+202G=
Gene: COL1A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94426732G= , CM000669.2:g.94426732G= GRCh38
NC_000007.13:g.94056044G= , CM000669.1:g.94056044G= GRCh37
NC_000007.12:g.93893980G= NCBI36
NG_007405.1:g.37172G= , LRG_2:g.37172G=

Transcript Alleles

HGVS Amino-acid Change
NM_000089.4:c.3105+202G= MANE Select NP_000080.2:n.3105+202G=
ENST00000297268.11:c.3105+202G= MANE Select ENSP00000297268.6:n.3105+202G=
NM_000089.3:c.3105+202G= , LRG_2t1:c.3105+202G= NP_000080.2:n.3105+202G=
ENST00000297268.10:c.3105+202G= ENSP00000297268.6:n.3105+202G=
ENST00000481570.5:n.3280G=
ENST00000488121.1:n.21+202G=
ENST00000620463.1:c.3099+202G= ENSP00000477719.1:n.3099+202G=