Canonical Allele Identifier: CA492691529

Gene: TM2D3

Linked Data

• dbSNP Id: rs1193470571
• gnomAD v2: 15-102186989-C-T
• gnomAD v4: 15-101646786-C-T
• MyVariant Identifiers: chr15:g.102186989C>T (hg19) ; chr15:g.101646786C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.101646786C>T , CM000677.2:g.101646786C>T	GRCh38
NC_000015.9:g.102186989C>T , CM000677.1:g.102186989C>T	GRCh37
NC_000015.8:g.100004512C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333202.8:c.441G>A MANE Select	ENSP00000330433.3:p.Val147=
ENST00000333202.7:c.441G>A	ENSP00000330433.3:p.Val147=
ENST00000347970.7:c.363G>A	ENSP00000327584.3:p.Val121=
ENST00000428002.6:c.363G>A	ENSP00000402179.2:p.Val121=
ENST00000558129.5:c.272G>A
ENST00000558677.5:c.742G>A
ENST00000559024.5:n.462G>A
ENST00000559107.5:c.441G>A	ENSP00000454131.1:p.Val147=
ENST00000560013.5:c.*809G>A	ENSP00000453503.1:n.*809G>A
ENST00000560910.5:n.383G>A
ENST00000561373.1:c.246G>A	ENSP00000452823.1:p.Val82=
NM_001307960.1:c.363G>A	NP_001294889.1:p.Val121=
NM_001308026.1:c.441G>A	NP_001294955.1:p.Val147=
NM_025141.3:c.363G>A	NP_079417.2:p.Val121=
NM_078474.2:c.441G>A	NP_510883.2:p.Val147=
NM_078474.3:c.441G>A MANE Select	NP_510883.2:p.Val147=
NM_001307960.2:c.363G>A	NP_001294889.1:p.Val121=
NM_001308026.2:c.441G>A	NP_001294955.1:p.Val147=
NM_025141.4:c.363G>A	NP_079417.2:p.Val121=