Canonical Allele Identifier: CA535179305

Gene: EDAR RANBP2

Linked Data

• dbSNP Id: rs1335359255
• gnomAD v2: 2-109513047-C-A
• gnomAD v3: 2-108896591-C-A
• gnomAD v4: 2-108896591-C-A
• MyVariant Identifiers: chr2:g.109513047C>A (hg19) ; chr2:g.108896591C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108896591C>A , CM000664.2:g.108896591C>A	GRCh38
NC_000002.11:g.109513047C>A , CM000664.1:g.109513047C>A	GRCh37
NC_000002.10:g.108879479C>A	NCBI36
NG_008257.1:g.97782G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258443.7:c.*316G>T (EDAR) MANE Select	ENSP00000258443.2:n.*316G>T
ENST00000258443.6:c.*316G>T (EDAR)	ENSP00000258443.2:n.*316G>T
ENST00000376651.1:c.*316G>T (EDAR)	ENSP00000365839.1:n.*316G>T
ENST00000409271.5:c.*316G>T (EDAR)	ENSP00000386371.1:n.*316G>T
NM_022336.3:c.*316G>T (EDAR)	NP_071731.1:n.*316G>T
XM_006712204.1:c.*316G>T (EDAR)	XP_006712267.1:n.*316G>T
XM_011510502.1:c.*316G>T (EDAR)	XP_011508804.1:n.*316G>T
XM_011510503.1:c.*316G>T (EDAR)	XP_011508805.1:n.*316G>T
XM_011510504.1:c.*316G>T (EDAR)	XP_011508806.1:n.*316G>T
XM_011510502.2:c.*316G>T (EDAR)	XP_011508804.2:n.*316G>T
XM_011510503.2:c.*316G>T (EDAR)	XP_011508805.2:n.*316G>T
XM_017004623.2:c.8370+123545C>A (RANBP2)	XP_016860112.1:n.8370+123545C>A
NM_022336.4:c.*316G>T (EDAR) MANE Select	NP_071731.1:n.*316G>T