Canonical Allele Identifier: CA53464979

Gene: EDAR RANBP2

Linked Data

• ClinVar Variation Id: 894528
• ClinVar RCV Id: RCV001135446
• dbSNP Id: rs1020417678
• gnomAD v2: 2-109513681-A-G
• gnomAD v4: 2-108897225-A-G
• MyVariant Identifiers: chr2:g.109513681A>G (hg19) ; chr2:g.108897225A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108897225A>G , CM000664.2:g.108897225A>G	GRCh38
NC_000002.11:g.109513681A>G , CM000664.1:g.109513681A>G	GRCh37
NC_000002.10:g.108880113A>G	NCBI36
NG_008257.1:g.97148T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258443.7:c.1029T>C (EDAR) MANE Select	ENSP00000258443.2:p.Leu343=
ENST00000258443.6:c.1029T>C (EDAR)	ENSP00000258443.2:p.Leu343=
ENST00000376651.1:c.1125T>C (EDAR)	ENSP00000365839.1:p.Leu375=
ENST00000409271.5:c.1125T>C (EDAR)	ENSP00000386371.1:p.Leu375=
NM_022336.3:c.1029T>C (EDAR)	NP_071731.1:p.Leu343=
XM_006712204.1:c.1125T>C (EDAR)	XP_006712267.1:p.Leu375=
XM_011510502.1:c.1176T>C (EDAR)	XP_011508804.1:p.Leu392=
XM_011510503.1:c.1080T>C (EDAR)	XP_011508805.1:p.Leu360=
XM_011510504.1:c.456T>C (EDAR)	XP_011508806.1:p.Leu152=
XM_011510502.2:c.1269T>C (EDAR)	XP_011508804.2:p.Leu423=
XM_011510503.2:c.1173T>C (EDAR)	XP_011508805.2:p.Leu391=
XM_017004623.2:c.8370+124179A>G (RANBP2)	XP_016860112.1:n.8370+124179A>G
NM_022336.4:c.1029T>C (EDAR) MANE Select	NP_071731.1:p.Leu343=