Canonical Allele Identifier: CA294449889

Gene: TIMP2

Linked Data

• dbSNP Id: rs192326708
• gnomAD v2: 17-76866919-G-A
• gnomAD v3: 17-78870837-G-A
• gnomAD v4: 17-78870837-G-A
• MyVariant Identifiers: chr17:g.76866919G>A (hg19) ; chr17:g.78870837G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.78870837G>A , CM000679.2:g.78870837G>A	GRCh38
NC_000017.10:g.76866919G>A , CM000679.1:g.76866919G>A	GRCh37
NC_000017.9:g.74378514G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000586713.6:c.109+61C>T	ENSP00000465968.2:n.109+61C>T
ENST00000706922.1:c.109+61C>T	ENSP00000516642.1:n.109+61C>T
ENST00000706923.1:c.109+61C>T	ENSP00000516643.1:n.109+61C>T
ENST00000262768.11:c.340+61C>T MANE Select	ENSP00000262768.6:n.340+61C>T
ENST00000536189.6:c.109+61C>T	ENSP00000441724.1:n.109+61C>T
ENST00000585421.5:c.109+61C>T	ENSP00000467584.1:n.109+61C>T
ENST00000586057.5:c.109+61C>T	ENSP00000468296.1:n.109+61C>T
ENST00000592761.2:c.109+61C>T	ENSP00000464930.1:n.109+61C>T
NM_003255.4:c.340+61C>T	NP_003246.1:n.340+61C>T
NM_003255.5:c.340+61C>T MANE Select	NP_003246.1:n.340+61C>T