Canonical Allele Identifier: CA368225165
Gene: COL1A2 HGNC NCBI

Linked Data

COSMIC: COSM4541700
MyVariant Identifiers: chr7:g.94055787G>A (hg19) chr7:g.94426475G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94426475G>A , CM000669.2:g.94426475G>A GRCh38
NC_000007.13:g.94055787G>A , CM000669.1:g.94055787G>A GRCh37
NC_000007.12:g.93893723G>A NCBI36
NG_007405.1:g.36915G>A , LRG_2:g.36915G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.3050G>A MANE Select ENSP00000297268.6:p.Arg1017Lys
ENST00000297268.10:c.3050G>A ENSP00000297268.6:p.Arg1017Lys
ENST00000478215.1:n.609G>A
ENST00000481570.5:n.3023G>A
ENST00000620463.1:c.3044G>A ENSP00000477719.1:p.Arg1015Lys
NM_000089.3:c.3050G>A , LRG_2t1:c.3050G>A NP_000080.2:p.Arg1017Lys
NM_000089.4:c.3050G>A MANE Select NP_000080.2:p.Arg1017Lys
Search 100 bp 5'
Search 100 bp 3'