Canonical Allele Identifier: CA162908100
Gene: COL1A2 HGNC NCBI

Linked Data

dbSNP Id: rs981353327
gnomAD v2: 7-94030576-A-T
gnomAD v3: 7-94401264-A-T
gnomAD v4: 7-94401264-A-T
MyVariant Identifiers: chr7:g.94030576A>T (hg19) chr7:g.94401264A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94401264A>T , CM000669.2:g.94401264A>T GRCh38
NC_000007.13:g.94030576A>T , CM000669.1:g.94030576A>T GRCh37
NC_000007.12:g.93868512A>T NCBI36
NG_007405.1:g.11704A>T , LRG_2:g.11704A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.226-303A>T MANE Select ENSP00000297268.6:n.226-303A>T
ENST00000297268.10:c.226-303A>T ENSP00000297268.6:n.226-303A>T
ENST00000620463.1:c.220-303A>T ENSP00000477719.1:n.220-303A>T
NM_000089.3:c.226-303A>T , LRG_2t1:c.226-303A>T NP_000080.2:n.226-303A>T
NM_000089.4:c.226-303A>T MANE Select NP_000080.2:n.226-303A>T
Search 100 bp 5'
Search 100 bp 3'