Canonical Allele Identifier: CA368222904
Gene: COL1A2 HGNC NCBI

Linked Data

COSMIC: COSM1178383
MyVariant Identifiers: chr7:g.94047111G>T (hg19) chr7:g.94417799G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94417799G>T , CM000669.2:g.94417799G>T GRCh38
NC_000007.13:g.94047111G>T , CM000669.1:g.94047111G>T GRCh37
NC_000007.12:g.93885047G>T NCBI36
NG_007405.1:g.28239G>T , LRG_2:g.28239G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000297268.11:c.1939G>T MANE Select ENSP00000297268.6:p.Ala647Ser
ENST00000297268.10:c.1939G>T ENSP00000297268.6:p.Ala647Ser
ENST00000461525.5:n.28G>T
ENST00000473573.5:n.276G>T
ENST00000497316.5:n.336G>T
ENST00000620463.1:c.1933G>T ENSP00000477719.1:p.Ala645Ser
NM_000089.3:c.1939G>T , LRG_2t1:c.1939G>T NP_000080.2:p.Ala647Ser
NM_000089.4:c.1939G>T MANE Select NP_000080.2:p.Ala647Ser
Search 100 bp 5'
Search 100 bp 3'