Canonical Allele Identifier: CA492691475

Gene: TM2D3

Linked Data

• dbSNP Id: rs1405449690
• gnomAD v2: 15-102186950-C-T
• gnomAD v3: 15-101646747-C-T
• gnomAD v4: 15-101646747-C-T
• COSMIC: COSM2201101
• MyVariant Identifiers: chr15:g.102186950C>T (hg19) ; chr15:g.101646747C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.101646747C>T , CM000677.2:g.101646747C>T	GRCh38
NC_000015.9:g.102186950C>T , CM000677.1:g.102186950C>T	GRCh37
NC_000015.8:g.100004473C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333202.8:c.480G>A MANE Select	ENSP00000330433.3:p.Val160=
ENST00000333202.7:c.480G>A	ENSP00000330433.3:p.Val160=
ENST00000347970.7:c.402G>A	ENSP00000327584.3:p.Val134=
ENST00000428002.6:c.402G>A	ENSP00000402179.2:p.Val134=
ENST00000558129.5:c.311G>A
ENST00000558677.5:c.781G>A
ENST00000559024.5:n.501G>A
ENST00000559107.5:c.480G>A	ENSP00000454131.1:p.Val160=
ENST00000560013.5:c.*848G>A	ENSP00000453503.1:n.*848G>A
ENST00000560910.5:n.422G>A
ENST00000561373.1:c.285G>A	ENSP00000452823.1:p.Val95=
NM_001307960.1:c.402G>A	NP_001294889.1:p.Val134=
NM_001308026.1:c.480G>A	NP_001294955.1:p.Val160=
NM_025141.3:c.402G>A	NP_079417.2:p.Val134=
NM_078474.2:c.480G>A	NP_510883.2:p.Val160=
NM_078474.3:c.480G>A MANE Select	NP_510883.2:p.Val160=
NM_001307960.2:c.402G>A	NP_001294889.1:p.Val134=
NM_001308026.2:c.480G>A	NP_001294955.1:p.Val160=
NM_025141.4:c.402G>A	NP_079417.2:p.Val134=