Canonical Allele Identifier: CA456490361
Gene: COL1A2 HGNC NCBI

Linked Data

COSMIC: COSM5009089
MyVariant Identifiers: chr7:g.94055800C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94426488C>T , CM000669.2:g.94426488C>T GRCh38
NC_000007.13:g.94055800C>T , CM000669.1:g.94055800C>T GRCh37
NC_000007.12:g.93893736C>T NCBI36
NG_007405.1:g.36928C>T , LRG_2:g.36928C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.3063C>T MANE Select ENSP00000297268.6:p.Gly1021=
ENST00000297268.10:c.3063C>T ENSP00000297268.6:p.Gly1021=
ENST00000478215.1:n.622C>T
ENST00000481570.5:n.3036C>T
ENST00000620463.1:c.3057C>T ENSP00000477719.1:p.Gly1019=
NM_000089.3:c.3063C>T , LRG_2t1:c.3063C>T NP_000080.2:p.Gly1021=
NM_000089.4:c.3063C>T MANE Select NP_000080.2:p.Gly1021=
Search 100 bp 5'
Search 100 bp 3'