Canonical Allele Identifier: CA393979076

Gene: TM2D3

Linked Data

• dbSNP Id: rs1896822834
• gnomAD v4: 15-101646767-A-G
• MyVariant Identifiers: chr15:g.102186970A>G (hg19) ; chr15:g.101646767A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.101646767A>G , CM000677.2:g.101646767A>G	GRCh38
NC_000015.9:g.102186970A>G , CM000677.1:g.102186970A>G	GRCh37
NC_000015.8:g.100004493A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000333202.8:c.460T>C MANE Select	ENSP00000330433.3:p.Tyr154His
ENST00000333202.7:c.460T>C	ENSP00000330433.3:p.Tyr154His
ENST00000347970.7:c.382T>C	ENSP00000327584.3:p.Tyr128His
ENST00000428002.6:c.382T>C	ENSP00000402179.2:p.Tyr128His
ENST00000558129.5:c.291T>C
ENST00000558677.5:c.761T>C
ENST00000559024.5:n.481T>C
ENST00000559107.5:c.460T>C	ENSP00000454131.1:p.Tyr154His
ENST00000560013.5:c.*828T>C	ENSP00000453503.1:n.*828T>C
ENST00000560910.5:n.402T>C
ENST00000561373.1:c.265T>C	ENSP00000452823.1:p.Tyr89His
NM_001307960.1:c.382T>C	NP_001294889.1:p.Tyr128His
NM_001308026.1:c.460T>C	NP_001294955.1:p.Tyr154His
NM_025141.3:c.382T>C	NP_079417.2:p.Tyr128His
NM_078474.2:c.460T>C	NP_510883.2:p.Tyr154His
NM_078474.3:c.460T>C MANE Select	NP_510883.2:p.Tyr154His
NM_001307960.2:c.382T>C	NP_001294889.1:p.Tyr128His
NM_001308026.2:c.460T>C	NP_001294955.1:p.Tyr154His
NM_025141.4:c.382T>C	NP_079417.2:p.Tyr128His