Canonical Allele Identifier: CA393979240

Gene: TM2D3

Linked Data

• MyVariant Identifiers: chr15:g.102187003T>G (hg19) ; chr15:g.101646800T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.101646800T>G , CM000677.2:g.101646800T>G	GRCh38
NC_000015.9:g.102187003T>G , CM000677.1:g.102187003T>G	GRCh37
NC_000015.8:g.100004526T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333202.8:c.427A>C MANE Select	ENSP00000330433.3:p.Ser143Arg
ENST00000333202.7:c.427A>C	ENSP00000330433.3:p.Ser143Arg
ENST00000347970.7:c.349A>C	ENSP00000327584.3:p.Ser117Arg
ENST00000428002.6:c.349A>C	ENSP00000402179.2:p.Ser117Arg
ENST00000558129.5:c.258A>C
ENST00000558677.5:c.728A>C
ENST00000559024.5:n.448A>C
ENST00000559107.5:c.427A>C	ENSP00000454131.1:p.Ser143Arg
ENST00000560013.5:c.*795A>C	ENSP00000453503.1:n.*795A>C
ENST00000560910.5:n.369A>C
ENST00000561373.1:c.232A>C	ENSP00000452823.1:p.Ser78Arg
NM_001307960.1:c.349A>C	NP_001294889.1:p.Ser117Arg
NM_001308026.1:c.427A>C	NP_001294955.1:p.Ser143Arg
NM_025141.3:c.349A>C	NP_079417.2:p.Ser117Arg
NM_078474.2:c.427A>C	NP_510883.2:p.Ser143Arg
NM_078474.3:c.427A>C MANE Select	NP_510883.2:p.Ser143Arg
NM_001307960.2:c.349A>C	NP_001294889.1:p.Ser117Arg
NM_001308026.2:c.427A>C	NP_001294955.1:p.Ser143Arg
NM_025141.4:c.349A>C	NP_079417.2:p.Ser117Arg