Canonical Allele Identifier: CA391483278

Gene: ENTREP2 NSMCE3

Linked Data

• ClinVar Variation Id: 2041856
• ClinVar RCV Id: RCV002903297
• gnomAD v4: 15-29268825-C-T
• MyVariant Identifiers: chr15:g.29561029C>T (hg19) ; chr15:g.29268825C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.29268825C>T , CM000677.2:g.29268825C>T	GRCh38
NC_000015.9:g.29561029C>T , CM000677.1:g.29561029C>T	GRCh37
NC_000015.8:g.27348321C>T	NCBI36
NG_053143.1:g.6005G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261275.5:c.277-16347G>A (ENTREP2) MANE Select	ENSP00000261275.4:n.277-16347G>A
ENST00000332303.6:c.881G>A (NSMCE3) MANE Select	ENSP00000330694.4:p.Arg294Lys
ENST00000261275.4:c.277-16347G>A (ENTREP2)	ENSP00000261275.4:n.277-16347G>A
ENST00000332303.4:c.881G>A (NSMCE3)	ENSP00000330694.4:p.Arg294Lys
ENST00000560082.1:c.-12-16347G>A (ENTREP2)	ENSP00000452860.1:n.-12-16347G>A
NM_015307.1:c.277-16347G>A (ENTREP2)	NP_056122.1:n.277-16347G>A
NM_138704.3:c.881G>A (NSMCE3)	NP_619649.1:p.Arg294Lys
XM_011521407.1:c.160-16347G>A (ENTREP2)	XP_011519709.1:n.160-16347G>A
XM_011521407.2:c.160-16347G>A (ENTREP2)	XP_011519709.1:n.160-16347G>A
NM_138704.4:c.881G>A (NSMCE3) MANE Select	NP_619649.1:p.Arg294Lys
NM_001387214.1:c.277-16347G>A (ENTREP2)	NP_001374143.1:n.277-16347G>A
NM_001387215.1:c.-12-16347G>A (ENTREP2)	NP_001374144.1:n.-12-16347G>A
NM_001387216.1:c.-12-16347G>A (ENTREP2)	NP_001374145.1:n.-12-16347G>A
NM_001387217.1:c.-12-16347G>A (ENTREP2)	NP_001374146.1:n.-12-16347G>A
NM_015307.2:c.277-16347G>A (ENTREP2) MANE Select	NP_056122.1:n.277-16347G>A