Canonical Allele Identifier: CA368222545
Gene: COL1A2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.94044581G>T (hg19) chr7:g.94415269G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94415269G>T , CM000669.2:g.94415269G>T GRCh38
NC_000007.13:g.94044581G>T , CM000669.1:g.94044581G>T GRCh37
NC_000007.12:g.93882517G>T NCBI36
NG_007405.1:g.25709G>T , LRG_2:g.25709G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000297268.11:c.1763G>T MANE Select ENSP00000297268.6:p.Arg588Ile
ENST00000297268.10:c.1763G>T ENSP00000297268.6:p.Arg588Ile
ENST00000473573.5:n.100G>T
ENST00000488298.5:n.187G>T
ENST00000620463.1:c.1757G>T ENSP00000477719.1:p.Arg586Ile
NM_000089.3:c.1763G>T , LRG_2t1:c.1763G>T NP_000080.2:p.Arg588Ile
NM_000089.4:c.1763G>T MANE Select NP_000080.2:p.Arg588Ile
Search 100 bp 5'
Search 100 bp 3'