Canonical Allele Identifier: CA475316890

Gene: EFEMP2

Linked Data

• MyVariant Identifiers: chr11:g.65636084G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65868613G>A , CM000673.2:g.65868613G>A	GRCh38
NC_000011.9:g.65636084G>A , CM000673.1:g.65636084G>A	GRCh37
NC_000011.8:g.65392660G>A	NCBI36
NG_012304.2:g.9322C>T
NG_053116.1:g.13552G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307998.11:c.744C>T MANE Select	ENSP00000309953.6:p.Ser248=
ENST00000307998.10:c.744C>T	ENSP00000309953.6:p.Ser248=
ENST00000526628.5:n.1310C>T
ENST00000527969.1:n.1429C>T
ENST00000528176.5:c.744C>T	ENSP00000434151.1:p.Ser248=
ENST00000531005.5:n.1738C>T
ENST00000531972.5:c.744C>T	ENSP00000435295.1:p.Ser248=
ENST00000532084.5:n.170C>T
NM_016938.4:c.744C>T	NP_058634.4:p.Ser248=
NR_037718.1:n.1003C>T
NM_016938.5:c.744C>T MANE Select	NP_058634.4:p.Ser248=
NR_037718.2:n.869C>T