Canonical Allele Identifier: CA348047433

Gene: EDAR RANBP2

Linked Data

• dbSNP Id: rs1270141741
• gnomAD v2: 2-109513374-C-A
• gnomAD v4: 2-108896918-C-A
• MyVariant Identifiers: chr2:g.109513374C>A (hg19) ; chr2:g.108896918C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108896918C>A , CM000664.2:g.108896918C>A	GRCh38
NC_000002.11:g.109513374C>A , CM000664.1:g.109513374C>A	GRCh37
NC_000002.10:g.108879806C>A	NCBI36
NG_008257.1:g.97455G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258443.7:c.1336G>T (EDAR) MANE Select	ENSP00000258443.2:p.Ala446Ser
ENST00000258443.6:c.1336G>T (EDAR)	ENSP00000258443.2:p.Ala446Ser
ENST00000376651.1:c.1432G>T (EDAR)	ENSP00000365839.1:p.Ala478Ser
ENST00000409271.5:c.1432G>T (EDAR)	ENSP00000386371.1:p.Ala478Ser
NM_022336.3:c.1336G>T (EDAR)	NP_071731.1:p.Ala446Ser
XM_006712204.1:c.1432G>T (EDAR)	XP_006712267.1:p.Ala478Ser
XM_011510502.1:c.1483G>T (EDAR)	XP_011508804.1:p.Ala495Ser
XM_011510503.1:c.1387G>T (EDAR)	XP_011508805.1:p.Ala463Ser
XM_011510504.1:c.763G>T (EDAR)	XP_011508806.1:p.Ala255Ser
XM_011510502.2:c.1576G>T (EDAR)	XP_011508804.2:p.Ala526Ser
XM_011510503.2:c.1480G>T (EDAR)	XP_011508805.2:p.Ala494Ser
XM_017004623.2:c.8370+123872C>A (RANBP2)	XP_016860112.1:n.8370+123872C>A
NM_022336.4:c.1336G>T (EDAR) MANE Select	NP_071731.1:p.Ala446Ser