Canonical Allele Identifier: CA456490344
Gene: COL1A2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.94055785C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94426473C>G , CM000669.2:g.94426473C>G GRCh38
NC_000007.13:g.94055785C>G , CM000669.1:g.94055785C>G GRCh37
NC_000007.12:g.93893721C>G NCBI36
NG_007405.1:g.36913C>G , LRG_2:g.36913C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.3048C>G MANE Select ENSP00000297268.6:p.Pro1016=
ENST00000297268.10:c.3048C>G ENSP00000297268.6:p.Pro1016=
ENST00000478215.1:n.607C>G
ENST00000481570.5:n.3021C>G
ENST00000620463.1:c.3042C>G ENSP00000477719.1:p.Pro1014=
NM_000089.3:c.3048C>G , LRG_2t1:c.3048C>G NP_000080.2:p.Pro1016=
NM_000089.4:c.3048C>G MANE Select NP_000080.2:p.Pro1016=