Canonical Allele Identifier: CA406136883

Gene: MEGF8

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.42370719G>T , CM000681.2:g.42370719G>T	GRCh38
NC_000019.9:g.42874871G>T , CM000681.1:g.42874871G>T	GRCh37
NC_000019.8:g.47566711G>T	NCBI36
NG_033030.1:g.50111G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001271938.2:c.7024G>T MANE Select	NP_001258867.1:p.Glu2342Ter
ENST00000251268.11:c.7024G>T MANE Select	ENSP00000251268.5:p.Glu2342Ter
NM_001271938.1:c.7024G>T	NP_001258867.1:p.Glu2342Ter
NM_001410.2:c.6823G>T	NP_001401.2:p.Glu2275Ter
NM_001410.3:c.6823G>T	NP_001401.2:p.Glu2275Ter
ENST00000251268.10:c.7024G>T	ENSP00000251268.5:p.Glu2342Ter
ENST00000334370.8:c.6823G>T	ENSP00000334219.4:p.Glu2275Ter
ENST00000378073.5:c.-62G>T	ENSP00000367313.4:n.-62G>T
ENST00000593647.1:c.283G>T	ENSP00000470620.1:p.Glu95Ter
ENST00000598762.1:c.162-7981G>T
ENST00000599787.1:n.92G>T