Canonical Allele Identifier: CA381356105

Gene: EFEMP2

Linked Data

• MyVariant Identifiers: chr11:g.65635995G>A (hg19) ; chr11:g.65868524G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65868524G>A , CM000673.2:g.65868524G>A	GRCh38
NC_000011.9:g.65635995G>A , CM000673.1:g.65635995G>A	GRCh37
NC_000011.8:g.65392571G>A	NCBI36
NG_012304.2:g.9411C>T
NG_053116.1:g.13463G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307998.11:c.833C>T MANE Select	ENSP00000309953.6:p.Thr278Ile
ENST00000307998.10:c.833C>T	ENSP00000309953.6:p.Thr278Ile
ENST00000526628.5:n.1399C>T
ENST00000527969.1:n.1518C>T
ENST00000528176.5:c.833C>T	ENSP00000434151.1:p.Thr278Ile
ENST00000530806.5:c.-166C>T	ENSP00000436526.1:n.-166C>T
ENST00000531005.5:n.1827C>T
ENST00000531972.5:c.833C>T	ENSP00000435295.1:p.Thr278Ile
ENST00000532084.5:n.259C>T
NM_016938.4:c.833C>T	NP_058634.4:p.Thr278Ile
NR_037718.1:n.1092C>T
NM_016938.5:c.833C>T MANE Select	NP_058634.4:p.Thr278Ile
NR_037718.2:n.958C>T