Canonical Allele Identifier: CA456490388
Gene: COL1A2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.94055836T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94426524T>G , CM000669.2:g.94426524T>G GRCh38
NC_000007.13:g.94055836T>G , CM000669.1:g.94055836T>G GRCh37
NC_000007.12:g.93893772T>G NCBI36
NG_007405.1:g.36964T>G , LRG_2:g.36964T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.3099T>G MANE Select ENSP00000297268.6:p.Gly1033=
ENST00000297268.10:c.3099T>G ENSP00000297268.6:p.Gly1033=
ENST00000478215.1:n.658T>G
ENST00000481570.5:n.3072T>G
ENST00000488121.1:n.15T>G
ENST00000620463.1:c.3093T>G ENSP00000477719.1:p.Gly1031=
NM_000089.3:c.3099T>G , LRG_2t1:c.3099T>G NP_000080.2:p.Gly1033=
NM_000089.4:c.3099T>G MANE Select NP_000080.2:p.Gly1033=