Canonical Allele Identifier: CA1726781635
Community Standard Title: NM_000089.4(COL1A2):c.2827G= (p.Gly943=)
Gene: COL1A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94425655G= , CM000669.2:g.94425655G= GRCh38
NC_000007.13:g.94054967G= , CM000669.1:g.94054967G= GRCh37
NC_000007.12:g.93892903G= NCBI36
NG_007405.1:g.36095G= , LRG_2:g.36095G=

Transcript Alleles

HGVS Amino-acid Change
NM_000089.4:c.2827G= MANE Select NP_000080.2:p.Gly943=
ENST00000297268.11:c.2827G= MANE Select ENSP00000297268.6:p.Gly943=
NM_000089.3:c.2827G= , LRG_2t1:c.2827G= NP_000080.2:p.Gly943=
ENST00000297268.10:c.2827G= ENSP00000297268.6:p.Gly943=
ENST00000469732.1:n.610G=
ENST00000478215.1:n.386G=
ENST00000481570.5:n.2800G=
ENST00000620463.1:c.2821G= ENSP00000477719.1:p.Gly941=