Canonical Allele Identifier: CA162908095
Gene: COL1A2 HGNC NCBI

Linked Data

dbSNP Id: rs905373989
gnomAD v3: 7-94401257-C-G
gnomAD v4: 7-94401257-C-G
MyVariant Identifiers: chr7:g.94030569C>G (hg19) chr7:g.94401257C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94401257C>G , CM000669.2:g.94401257C>G GRCh38
NC_000007.13:g.94030569C>G , CM000669.1:g.94030569C>G GRCh37
NC_000007.12:g.93868505C>G NCBI36
NG_007405.1:g.11697C>G , LRG_2:g.11697C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.226-310C>G MANE Select ENSP00000297268.6:n.226-310C>G
ENST00000297268.10:c.226-310C>G ENSP00000297268.6:n.226-310C>G
ENST00000620463.1:c.220-310C>G ENSP00000477719.1:n.220-310C>G
NM_000089.3:c.226-310C>G , LRG_2t1:c.226-310C>G NP_000080.2:n.226-310C>G
NM_000089.4:c.226-310C>G MANE Select NP_000080.2:n.226-310C>G
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