Canonical Allele Identifier: CA6110740

Gene: EFEMP2

Linked Data

• ClinVar Variation Id: 2074396
• ClinVar RCV Id: RCV002976196 ; RCV003377822
• dbSNP Id: rs755171433
• ExAC: 11:65638770 G / A
• gnomAD v2: 11-65638770-G-A
• gnomAD v3: 11-65871299-G-A
• gnomAD v4: 11-65871299-G-A
• MyVariant Identifiers: chr11:g.65638770G>A (hg19) ; chr11:g.65871299G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65871299G>A , CM000673.2:g.65871299G>A	GRCh38
NC_000011.9:g.65638770G>A , CM000673.1:g.65638770G>A	GRCh37
NC_000011.8:g.65395346G>A	NCBI36
NG_012304.2:g.6636C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307998.11:c.225C>T MANE Select	ENSP00000309953.6:p.Tyr75=
ENST00000307998.10:c.225C>T	ENSP00000309953.6:p.Tyr75=
ENST00000526624.5:c.225C>T	ENSP00000435419.1:p.Tyr75=
ENST00000527378.1:c.225C>T	ENSP00000435963.1:p.Tyr75=
ENST00000528176.5:c.225C>T	ENSP00000434151.1:p.Tyr75=
ENST00000530850.1:c.*37C>T	ENSP00000437238.1:n.*37C>T
ENST00000531005.5:n.721C>T
ENST00000531972.5:c.225C>T	ENSP00000435295.1:p.Tyr75=
ENST00000533347.5:c.*37C>T	ENSP00000435823.1:n.*37C>T
NM_016938.4:c.225C>T	NP_058634.4:p.Tyr75=
NR_037718.1:n.484C>T
NM_016938.5:c.225C>T MANE Select	NP_058634.4:p.Tyr75=
NR_037718.2:n.350C>T