Canonical Allele Identifier: CA1726783411
Gene: COL1A2 HGNC NCBI

Linked Data

dbSNP Id: rs1333669172
gnomAD v4: 7-94426574-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94426574G>A , CM000669.2:g.94426574G>A GRCh38
NC_000007.13:g.94055886G>A , CM000669.1:g.94055886G>A GRCh37
NC_000007.12:g.93893822G>A NCBI36
NG_007405.1:g.37014G>A , LRG_2:g.37014G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.3105+44G>A MANE Select ENSP00000297268.6:n.3105+44G>A
ENST00000297268.10:c.3105+44G>A ENSP00000297268.6:n.3105+44G>A
ENST00000478215.1:n.708G>A
ENST00000481570.5:n.3122G>A
ENST00000488121.1:n.21+44G>A
ENST00000620463.1:c.3099+44G>A ENSP00000477719.1:n.3099+44G>A
NM_000089.3:c.3105+44G>A , LRG_2t1:c.3105+44G>A NP_000080.2:n.3105+44G>A
NM_000089.4:c.3105+44G>A MANE Select NP_000080.2:n.3105+44G>A
Search 100 bp 5'
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