Canonical Allele Identifier: CA368222542
Gene: COL1A2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.94044580A>T (hg19) chr7:g.94415268A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94415268A>T , CM000669.2:g.94415268A>T GRCh38
NC_000007.13:g.94044580A>T , CM000669.1:g.94044580A>T GRCh37
NC_000007.12:g.93882516A>T NCBI36
NG_007405.1:g.25708A>T , LRG_2:g.25708A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000297268.11:c.1762A>T MANE Select ENSP00000297268.6:p.Arg588Ter
ENST00000297268.10:c.1762A>T ENSP00000297268.6:p.Arg588Ter
ENST00000473573.5:n.99A>T
ENST00000488298.5:n.186A>T
ENST00000620463.1:c.1756A>T ENSP00000477719.1:p.Arg586Ter
NM_000089.3:c.1762A>T , LRG_2t1:c.1762A>T NP_000080.2:p.Arg588Ter
NM_000089.4:c.1762A>T MANE Select NP_000080.2:p.Arg588Ter
Search 100 bp 5'
Search 100 bp 3'