Canonical Allele Identifier: CA348050998

Gene: EDAR RANBP2

Linked Data

• gnomAD v4: 2-108907941-C-A
• MyVariant Identifiers: chr2:g.109524397C>A (hg19) ; chr2:g.108907941C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108907941C>A , CM000664.2:g.108907941C>A	GRCh38
NC_000002.11:g.109524397C>A , CM000664.1:g.109524397C>A	GRCh37
NC_000002.10:g.108890829C>A	NCBI36
NG_008257.1:g.86432G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258443.7:c.882G>T (EDAR) MANE Select	ENSP00000258443.2:p.Lys294Asn
ENST00000258443.6:c.882G>T (EDAR)	ENSP00000258443.2:p.Lys294Asn
ENST00000376651.1:c.978G>T (EDAR)	ENSP00000365839.1:p.Lys326Asn
ENST00000409271.5:c.978G>T (EDAR)	ENSP00000386371.1:p.Lys326Asn
NM_022336.3:c.882G>T (EDAR)	NP_071731.1:p.Lys294Asn
XM_006712204.1:c.978G>T (EDAR)	XP_006712267.1:p.Lys326Asn
XM_011510502.1:c.1029G>T (EDAR)	XP_011508804.1:p.Lys343Asn
XM_011510503.1:c.933G>T (EDAR)	XP_011508805.1:p.Lys311Asn
XM_011510504.1:c.309G>T (EDAR)	XP_011508806.1:p.Lys103Asn
XM_011510502.2:c.1122G>T (EDAR)	XP_011508804.2:p.Lys374Asn
XM_011510503.2:c.1026G>T (EDAR)	XP_011508805.2:p.Lys342Asn
XM_017004623.2:c.8370+134895C>A (RANBP2)	XP_016860112.1:n.8370+134895C>A
NM_022336.4:c.882G>T (EDAR) MANE Select	NP_071731.1:p.Lys294Asn