Canonical Allele Identifier: CA576707141
Gene: COL1A2 HGNC NCBI

Linked Data

dbSNP Id: rs1242280941
gnomAD v2: 7-94052467-T-TGA
MyVariant Identifiers: chr7:g.94052467_94052468insGA (hg19) chr7:g.94423155_94423156insGA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94423156_94423157insAG , CM000669.2:g.94423156_94423157insAG GRCh38
NC_000007.13:g.94052468_94052469insAG , CM000669.1:g.94052468_94052469insAG GRCh37
NC_000007.12:g.93890404_93890405insAG NCBI36
NG_007405.1:g.33596_33597insAG , LRG_2:g.33596_33597insAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.2565+38_2565+39insAG MANE Select ENSP00000297268.6:n.2565+38_2565+39insAG
ENST00000297268.10:c.2565+38_2565+39insAG ENSP00000297268.6:n.2565+38_2565+39insAG
ENST00000481570.5:n.686_687insAG
ENST00000620463.1:c.2559+38_2559+39insAG ENSP00000477719.1:n.2559+38_2559+39insAG
NM_000089.3:c.2565+38_2565+39insAG , LRG_2t1:c.2565+38_2565+39insAG NP_000080.2:n.2565+38_2565+39insAG
NM_000089.4:c.2565+38_2565+39insAG MANE Select NP_000080.2:n.2565+38_2565+39insAG
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