Canonical Allele Identifier: CA599855949

Gene: EFEMP2

Linked Data

• dbSNP Id: rs1442523217
• gnomAD v2: 11-65636144-T-TCACC
• gnomAD v4: 11-65868673-T-TCACC
• MyVariant Identifiers: chr11:g.65636144_65636145insCACC (hg19) ; chr11:g.65868673_65868674insCACC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65868674_65868677dup , CM000673.2:g.65868674_65868677dup	GRCh38
NC_000011.9:g.65636145_65636148dup , CM000673.1:g.65636145_65636148dup	GRCh37
NC_000011.8:g.65392721_65392724dup	NCBI36
NG_012304.2:g.9258_9261dup
NG_053116.1:g.13613_13616dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307998.11:c.728-48_728-45dup MANE Select	ENSP00000309953.6:n.728-48_728-45dup
ENST00000307998.10:c.728-48_728-45dup	ENSP00000309953.6:n.728-48_728-45dup
ENST00000526628.5:n.1246_1249dup
ENST00000527969.1:n.1365_1368dup
ENST00000528176.5:c.728-48_728-45dup	ENSP00000434151.1:n.728-48_728-45dup
ENST00000531005.5:n.1722-48_1722-45dup
ENST00000531972.5:c.728-48_728-45dup	ENSP00000435295.1:n.728-48_728-45dup
ENST00000532084.5:n.154-48_154-45dup
NM_016938.4:c.728-48_728-45dup	NP_058634.4:n.728-48_728-45dup
NR_037718.1:n.987-48_987-45dup
NM_016938.5:c.728-48_728-45dup MANE Select	NP_058634.4:n.728-48_728-45dup
NR_037718.2:n.853-48_853-45dup