Canonical Allele Identifier: CA381310645

Gene: EFEMP2

Linked Data

• dbSNP Id: rs1357792181
• gnomAD v2: 11-65638829-T-A
• gnomAD v4: 11-65871358-T-A
• MyVariant Identifiers: chr11:g.65638829T>A (hg19) ; chr11:g.65871358T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65871358T>A , CM000673.2:g.65871358T>A	GRCh38
NC_000011.9:g.65638829T>A , CM000673.1:g.65638829T>A	GRCh37
NC_000011.8:g.65395405T>A	NCBI36
NG_012304.2:g.6577A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000307998.11:c.166A>T MANE Select	ENSP00000309953.6:p.Asn56Tyr
ENST00000307998.10:c.166A>T	ENSP00000309953.6:p.Asn56Tyr
ENST00000526624.5:c.166A>T	ENSP00000435419.1:p.Asn56Tyr
ENST00000527378.1:c.166A>T	ENSP00000435963.1:p.Asn56Tyr
ENST00000528176.5:c.166A>T	ENSP00000434151.1:p.Asn56Tyr
ENST00000530850.1:c.155A>T	ENSP00000437238.1:p.Gln52Leu
ENST00000531005.5:n.662A>T
ENST00000531972.5:c.166A>T	ENSP00000435295.1:p.Asn56Tyr
ENST00000533347.5:c.212A>T	ENSP00000435823.1:p.Gln71Leu
NM_016938.4:c.166A>T	NP_058634.4:p.Asn56Tyr
NR_037718.1:n.425A>T
NM_016938.5:c.166A>T MANE Select	NP_058634.4:p.Asn56Tyr
NR_037718.2:n.291A>T