Canonical Allele Identifier: CA973551192

Gene: TM2D3

Linked Data

• dbSNP Id: rs1896819893
• gnomAD v3: 15-101646713-A-C
• gnomAD v4: 15-101646713-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.101646713A>C , CM000677.2:g.101646713A>C	GRCh38
NC_000015.9:g.102186916A>C , CM000677.1:g.102186916A>C	GRCh37
NC_000015.8:g.100004439A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333202.8:c.502+12T>G MANE Select	ENSP00000330433.3:n.502+12T>G
ENST00000333202.7:c.502+12T>G	ENSP00000330433.3:n.502+12T>G
ENST00000347970.7:c.424+12T>G	ENSP00000327584.3:n.424+12T>G
ENST00000428002.6:c.424+12T>G	ENSP00000402179.2:n.424+12T>G
ENST00000558129.5:c.333+12T>G
ENST00000558677.5:c.803+12T>G
ENST00000559024.5:n.535T>G
ENST00000559107.5:c.502+12T>G	ENSP00000454131.1:n.502+12T>G
ENST00000560013.5:c.*870+12T>G	ENSP00000453503.1:n.*870+12T>G
ENST00000560910.5:n.456T>G
ENST00000561373.1:c.307+12T>G	ENSP00000452823.1:n.307+12T>G
NM_001307960.1:c.424+12T>G	NP_001294889.1:n.424+12T>G
NM_001308026.1:c.502+12T>G	NP_001294955.1:n.502+12T>G
NM_025141.3:c.424+12T>G	NP_079417.2:n.424+12T>G
NM_078474.2:c.502+12T>G	NP_510883.2:n.502+12T>G
NM_078474.3:c.502+12T>G MANE Select	NP_510883.2:n.502+12T>G
NM_001307960.2:c.424+12T>G	NP_001294889.1:n.424+12T>G
NM_001308026.2:c.502+12T>G	NP_001294955.1:n.502+12T>G
NM_025141.4:c.424+12T>G	NP_079417.2:n.424+12T>G