Canonical Allele Identifier: CA1824780

Gene: EDAR RANBP2

Linked Data

• dbSNP Id: rs192939679
• ExAC: 2:109513372 A / G
• gnomAD v2: 2-109513372-A-G
• gnomAD v3: 2-108896916-A-G
• gnomAD v4: 2-108896916-A-G
• MyVariant Identifiers: chr2:g.109513372A>G (hg19) ; chr2:g.108896916A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108896916A>G , CM000664.2:g.108896916A>G	GRCh38
NC_000002.11:g.109513372A>G , CM000664.1:g.109513372A>G	GRCh37
NC_000002.10:g.108879804A>G	NCBI36
NG_008257.1:g.97457T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258443.7:c.1338T>C (EDAR) MANE Select	ENSP00000258443.2:p.Ala446=
ENST00000258443.6:c.1338T>C (EDAR)	ENSP00000258443.2:p.Ala446=
ENST00000376651.1:c.1434T>C (EDAR)	ENSP00000365839.1:p.Ala478=
ENST00000409271.5:c.1434T>C (EDAR)	ENSP00000386371.1:p.Ala478=
NM_022336.3:c.1338T>C (EDAR)	NP_071731.1:p.Ala446=
XM_006712204.1:c.1434T>C (EDAR)	XP_006712267.1:p.Ala478=
XM_011510502.1:c.1485T>C (EDAR)	XP_011508804.1:p.Ala495=
XM_011510503.1:c.1389T>C (EDAR)	XP_011508805.1:p.Ala463=
XM_011510504.1:c.765T>C (EDAR)	XP_011508806.1:p.Ala255=
XM_011510502.2:c.1578T>C (EDAR)	XP_011508804.2:p.Ala526=
XM_011510503.2:c.1482T>C (EDAR)	XP_011508805.2:p.Ala494=
XM_017004623.2:c.8370+123870A>G (RANBP2)	XP_016860112.1:n.8370+123870A>G
NM_022336.4:c.1338T>C (EDAR) MANE Select	NP_071731.1:p.Ala446=