Canonical Allele Identifier: CA427911915

Gene: EDAR RANBP2

Linked Data

• dbSNP Id: rs1251656516
• gnomAD v2: 2-109524367-C-T
• gnomAD v4: 2-108907911-C-T
• COSMIC: COSM4680150 ; COSM4680151
• MyVariant Identifiers: chr2:g.109524367C>T (hg19) ; chr2:g.108907911C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108907911C>T , CM000664.2:g.108907911C>T	GRCh38
NC_000002.11:g.109524367C>T , CM000664.1:g.109524367C>T	GRCh37
NC_000002.10:g.108890799C>T	NCBI36
NG_008257.1:g.86462G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258443.7:c.912G>A (EDAR) MANE Select	ENSP00000258443.2:p.Ser304=
ENST00000258443.6:c.912G>A (EDAR)	ENSP00000258443.2:p.Ser304=
ENST00000376651.1:c.1008G>A (EDAR)	ENSP00000365839.1:p.Ser336=
ENST00000409271.5:c.1008G>A (EDAR)	ENSP00000386371.1:p.Ser336=
NM_022336.3:c.912G>A (EDAR)	NP_071731.1:p.Ser304=
XM_006712204.1:c.1008G>A (EDAR)	XP_006712267.1:p.Ser336=
XM_011510502.1:c.1059G>A (EDAR)	XP_011508804.1:p.Ser353=
XM_011510503.1:c.963G>A (EDAR)	XP_011508805.1:p.Ser321=
XM_011510504.1:c.339G>A (EDAR)	XP_011508806.1:p.Ser113=
XM_011510502.2:c.1152G>A (EDAR)	XP_011508804.2:p.Ser384=
XM_011510503.2:c.1056G>A (EDAR)	XP_011508805.2:p.Ser352=
XM_017004623.2:c.8370+134865C>T (RANBP2)	XP_016860112.1:n.8370+134865C>T
NM_022336.4:c.912G>A (EDAR) MANE Select	NP_071731.1:p.Ser304=