Canonical Allele Identifier: CA381357194

Gene: EFEMP2

Linked Data

• dbSNP Id: rs1591066108
• gnomAD v4: 11-65868590-T-C
• MyVariant Identifiers: chr11:g.65636061T>C (hg19) ; chr11:g.65868590T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65868590T>C , CM000673.2:g.65868590T>C	GRCh38
NC_000011.9:g.65636061T>C , CM000673.1:g.65636061T>C	GRCh37
NC_000011.8:g.65392637T>C	NCBI36
NG_012304.2:g.9345A>G
NG_053116.1:g.13529T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307998.11:c.767A>G MANE Select	ENSP00000309953.6:p.Tyr256Cys
ENST00000307998.10:c.767A>G	ENSP00000309953.6:p.Tyr256Cys
ENST00000526628.5:n.1333A>G
ENST00000527969.1:n.1452A>G
ENST00000528176.5:c.767A>G	ENSP00000434151.1:p.Tyr256Cys
ENST00000531005.5:n.1761A>G
ENST00000531972.5:c.767A>G	ENSP00000435295.1:p.Tyr256Cys
ENST00000532084.5:n.193A>G
NM_016938.4:c.767A>G	NP_058634.4:p.Tyr256Cys
NR_037718.1:n.1026A>G
NM_016938.5:c.767A>G MANE Select	NP_058634.4:p.Tyr256Cys
NR_037718.2:n.892A>G