Canonical Allele Identifier: CA210913

Gene: EDAR RANBP2

Linked Data

• ClinVar Variation Id: 155865
• ClinVar RCV Id: RCV000143982 ; RCV000150610 ; RCV000269800 ; RCV001133946 ; RCV001520373 ; RCV001657822 ; RCV001657823
• dbSNP Id: rs12623957
• ExAC: 2:109513654 G / A
• gnomAD v2: 2-109513654-G-A
• gnomAD v3: 2-108897198-G-A
• gnomAD v4: 2-108897198-G-A
• MyVariant Identifiers: chr2:g.109513654G>A (hg19) ; chr2:g.108897198G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108897198G>A , CM000664.2:g.108897198G>A	GRCh38
NC_000002.11:g.109513654G>A , CM000664.1:g.109513654G>A	GRCh37
NC_000002.10:g.108880086G>A	NCBI36
NG_008257.1:g.97175C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258443.7:c.1056C>T (EDAR) MANE Select	ENSP00000258443.2:p.Cys352=
ENST00000258443.6:c.1056C>T (EDAR)	ENSP00000258443.2:p.Cys352=
ENST00000376651.1:c.1152C>T (EDAR)	ENSP00000365839.1:p.Cys384=
ENST00000409271.5:c.1152C>T (EDAR)	ENSP00000386371.1:p.Cys384=
NM_022336.3:c.1056C>T (EDAR)	NP_071731.1:p.Cys352=
XM_006712204.1:c.1152C>T (EDAR)	XP_006712267.1:p.Cys384=
XM_011510502.1:c.1203C>T (EDAR)	XP_011508804.1:p.Cys401=
XM_011510503.1:c.1107C>T (EDAR)	XP_011508805.1:p.Cys369=
XM_011510504.1:c.483C>T (EDAR)	XP_011508806.1:p.Cys161=
XM_011510502.2:c.1296C>T (EDAR)	XP_011508804.2:p.Cys432=
XM_011510503.2:c.1200C>T (EDAR)	XP_011508805.2:p.Cys400=
XM_017004623.2:c.8370+124152G>A (RANBP2)	XP_016860112.1:n.8370+124152G>A
NM_022336.4:c.1056C>T (EDAR) MANE Select	NP_071731.1:p.Cys352=