Canonical Allele Identifier: CA2805490155

Gene: TM2D3

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.101646708C>G , CM000677.2:g.101646708C>G	GRCh38
NC_000015.9:g.102186911C>G , CM000677.1:g.102186911C>G	GRCh37
NC_000015.8:g.100004434C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333202.8:c.502+17G>C MANE Select	ENSP00000330433.3:n.502+17G>C
ENST00000333202.7:c.502+17G>C	ENSP00000330433.3:n.502+17G>C
ENST00000347970.7:c.424+17G>C	ENSP00000327584.3:n.424+17G>C
ENST00000428002.6:c.424+17G>C	ENSP00000402179.2:n.424+17G>C
ENST00000558129.5:c.333+17G>C
ENST00000558677.5:c.803+17G>C
ENST00000559024.5:n.540G>C
ENST00000559107.5:c.502+17G>C	ENSP00000454131.1:n.502+17G>C
ENST00000560013.5:c.*870+17G>C	ENSP00000453503.1:n.*870+17G>C
ENST00000560910.5:n.461G>C
ENST00000561373.1:c.307+17G>C	ENSP00000452823.1:n.307+17G>C
NM_001307960.1:c.424+17G>C	NP_001294889.1:n.424+17G>C
NM_001308026.1:c.502+17G>C	NP_001294955.1:n.502+17G>C
NM_025141.3:c.424+17G>C	NP_079417.2:n.424+17G>C
NM_078474.2:c.502+17G>C	NP_510883.2:n.502+17G>C
NM_078474.3:c.502+17G>C MANE Select	NP_510883.2:n.502+17G>C
NM_001307960.2:c.424+17G>C	NP_001294889.1:n.424+17G>C
NM_001308026.2:c.502+17G>C	NP_001294955.1:n.502+17G>C
NM_025141.4:c.424+17G>C	NP_079417.2:n.424+17G>C