Canonical Allele Identifier: CA348047436

Gene: EDAR RANBP2

Linked Data

• dbSNP Id: rs1490291830
• gnomAD v2: 2-109513375-A-C
• gnomAD v4: 2-108896919-A-C
• MyVariant Identifiers: chr2:g.109513375A>C (hg19) ; chr2:g.108896919A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108896919A>C , CM000664.2:g.108896919A>C	GRCh38
NC_000002.11:g.109513375A>C , CM000664.1:g.109513375A>C	GRCh37
NC_000002.10:g.108879807A>C	NCBI36
NG_008257.1:g.97454T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258443.7:c.1335T>G (EDAR) MANE Select	ENSP00000258443.2:p.His445Gln
ENST00000258443.6:c.1335T>G (EDAR)	ENSP00000258443.2:p.His445Gln
ENST00000376651.1:c.1431T>G (EDAR)	ENSP00000365839.1:p.His477Gln
ENST00000409271.5:c.1431T>G (EDAR)	ENSP00000386371.1:p.His477Gln
NM_022336.3:c.1335T>G (EDAR)	NP_071731.1:p.His445Gln
XM_006712204.1:c.1431T>G (EDAR)	XP_006712267.1:p.His477Gln
XM_011510502.1:c.1482T>G (EDAR)	XP_011508804.1:p.His494Gln
XM_011510503.1:c.1386T>G (EDAR)	XP_011508805.1:p.His462Gln
XM_011510504.1:c.762T>G (EDAR)	XP_011508806.1:p.His254Gln
XM_011510502.2:c.1575T>G (EDAR)	XP_011508804.2:p.His525Gln
XM_011510503.2:c.1479T>G (EDAR)	XP_011508805.2:p.His493Gln
XM_017004623.2:c.8370+123873A>C (RANBP2)	XP_016860112.1:n.8370+123873A>C
NM_022336.4:c.1335T>G (EDAR) MANE Select	NP_071731.1:p.His445Gln