Canonical Allele Identifier: CA710712298

Gene: TM2D3

Linked Data

• dbSNP Id: rs1284374944
• gnomAD v3: 15-101646567-TAGTACGTTG-T
• gnomAD v4: 15-101646567-TAGTACGTTG-T
• MyVariant Identifiers: chr15:g.102186771_102186779del (hg19) ; chr15:g.101646568_101646576del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.101646571_101646579del , CM000677.2:g.101646571_101646579del	GRCh38
NC_000015.9:g.102186774_102186782del , CM000677.1:g.102186774_102186782del	GRCh37
NC_000015.8:g.100004297_100004305del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000333202.8:c.502+149_502+157del MANE Select	ENSP00000330433.3:n.502+149_502+157del
ENST00000333202.7:c.502+149_502+157del	ENSP00000330433.3:n.502+149_502+157del
ENST00000347970.7:c.424+149_424+157del	ENSP00000327584.3:n.424+149_424+157del
ENST00000428002.6:c.424+149_424+157del	ENSP00000402179.2:n.424+149_424+157del
ENST00000558129.5:c.333+149_333+157del
ENST00000558677.5:c.803+149_803+157del
ENST00000559024.5:n.672_680del
ENST00000559107.5:c.502+149_502+157del	ENSP00000454131.1:n.502+149_502+157del
ENST00000560013.5:c.*870+149_*870+157del	ENSP00000453503.1:n.*870+149_*870+157del
ENST00000561373.1:c.307+149_307+157del	ENSP00000452823.1:n.307+149_307+157del
NM_001307960.1:c.424+149_424+157del	NP_001294889.1:n.424+149_424+157del
NM_001308026.1:c.502+149_502+157del	NP_001294955.1:n.502+149_502+157del
NM_025141.3:c.424+149_424+157del	NP_079417.2:n.424+149_424+157del
NM_078474.2:c.502+149_502+157del	NP_510883.2:n.502+149_502+157del
NM_078474.3:c.502+149_502+157del MANE Select	NP_510883.2:n.502+149_502+157del
NM_001307960.2:c.424+149_424+157del	NP_001294889.1:n.424+149_424+157del
NM_001308026.2:c.502+149_502+157del	NP_001294955.1:n.502+149_502+157del
NM_025141.4:c.424+149_424+157del	NP_079417.2:n.424+149_424+157del