Canonical Allele Identifier: CA4346832
Gene: COL1A2 HGNC NCBI

Linked Data

dbSNP Id: rs748470720
ExAC: 7:94038613 T / A
gnomAD v2: 7-94038613-T-A
gnomAD v3: 7-94409301-T-A
gnomAD v4: 7-94409301-T-A
MyVariant Identifiers: chr7:g.94038613T>A (hg19) chr7:g.94409301T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94409301T>A , CM000669.2:g.94409301T>A GRCh38
NC_000007.13:g.94038613T>A , CM000669.1:g.94038613T>A GRCh37
NC_000007.12:g.93876549T>A NCBI36
NG_007405.1:g.19741T>A , LRG_2:g.19741T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000297268.11:c.793-21T>A MANE Select ENSP00000297268.6:n.793-21T>A
ENST00000297268.10:c.793-21T>A ENSP00000297268.6:n.793-21T>A
ENST00000620463.1:c.787-21T>A ENSP00000477719.1:n.787-21T>A
NM_000089.3:c.793-21T>A , LRG_2t1:c.793-21T>A NP_000080.2:n.793-21T>A
NM_000089.4:c.793-21T>A MANE Select NP_000080.2:n.793-21T>A
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