Canonical Allele Identifier: CA348048112

Gene: EDAR RANBP2

Linked Data

• MyVariant Identifiers: chr2:g.109513558C>G (hg19) ; chr2:g.108897102C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108897102C>G , CM000664.2:g.108897102C>G	GRCh38
NC_000002.11:g.109513558C>G , CM000664.1:g.109513558C>G	GRCh37
NC_000002.10:g.108879990C>G	NCBI36
NG_008257.1:g.97271G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258443.7:c.1152G>C (EDAR) MANE Select	ENSP00000258443.2:p.Lys384Asn
ENST00000258443.6:c.1152G>C (EDAR)	ENSP00000258443.2:p.Lys384Asn
ENST00000376651.1:c.1248G>C (EDAR)	ENSP00000365839.1:p.Lys416Asn
ENST00000409271.5:c.1248G>C (EDAR)	ENSP00000386371.1:p.Lys416Asn
NM_022336.3:c.1152G>C (EDAR)	NP_071731.1:p.Lys384Asn
XM_006712204.1:c.1248G>C (EDAR)	XP_006712267.1:p.Lys416Asn
XM_011510502.1:c.1299G>C (EDAR)	XP_011508804.1:p.Lys433Asn
XM_011510503.1:c.1203G>C (EDAR)	XP_011508805.1:p.Lys401Asn
XM_011510504.1:c.579G>C (EDAR)	XP_011508806.1:p.Lys193Asn
XM_011510502.2:c.1392G>C (EDAR)	XP_011508804.2:p.Lys464Asn
XM_011510503.2:c.1296G>C (EDAR)	XP_011508805.2:p.Lys432Asn
XM_017004623.2:c.8370+124056C>G (RANBP2)	XP_016860112.1:n.8370+124056C>G
NM_022336.4:c.1152G>C (EDAR) MANE Select	NP_071731.1:p.Lys384Asn