Canonical Allele Identifier: CA368222922
Gene: COL1A2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.94047120A>T (hg19) chr7:g.94417808A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94417808A>T , CM000669.2:g.94417808A>T GRCh38
NC_000007.13:g.94047120A>T , CM000669.1:g.94047120A>T GRCh37
NC_000007.12:g.93885056A>T NCBI36
NG_007405.1:g.28248A>T , LRG_2:g.28248A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000297268.11:c.1948A>T MANE Select ENSP00000297268.6:p.Ile650Leu
ENST00000297268.10:c.1948A>T ENSP00000297268.6:p.Ile650Leu
ENST00000461525.5:n.37A>T
ENST00000473573.5:n.285A>T
ENST00000497316.5:n.345A>T
ENST00000620463.1:c.1942A>T ENSP00000477719.1:p.Ile648Leu
NM_000089.3:c.1948A>T , LRG_2t1:c.1948A>T NP_000080.2:p.Ile650Leu
NM_000089.4:c.1948A>T MANE Select NP_000080.2:p.Ile650Leu
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