Canonical Allele Identifier: CA348048197

Gene: EDAR RANBP2

Linked Data

• dbSNP Id: rs1207394495
• gnomAD v2: 2-109513598-A-G
• gnomAD v3: 2-108897142-A-G
• gnomAD v4: 2-108897142-A-G
• MyVariant Identifiers: chr2:g.109513598A>G (hg19) ; chr2:g.108897142A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108897142A>G , CM000664.2:g.108897142A>G	GRCh38
NC_000002.11:g.109513598A>G , CM000664.1:g.109513598A>G	GRCh37
NC_000002.10:g.108880030A>G	NCBI36
NG_008257.1:g.97231T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000258443.7:c.1112T>C (EDAR) MANE Select	ENSP00000258443.2:p.Val371Ala
ENST00000258443.6:c.1112T>C (EDAR)	ENSP00000258443.2:p.Val371Ala
ENST00000376651.1:c.1208T>C (EDAR)	ENSP00000365839.1:p.Val403Ala
ENST00000409271.5:c.1208T>C (EDAR)	ENSP00000386371.1:p.Val403Ala
NM_022336.3:c.1112T>C (EDAR)	NP_071731.1:p.Val371Ala
XM_006712204.1:c.1208T>C (EDAR)	XP_006712267.1:p.Val403Ala
XM_011510502.1:c.1259T>C (EDAR)	XP_011508804.1:p.Val420Ala
XM_011510503.1:c.1163T>C (EDAR)	XP_011508805.1:p.Val388Ala
XM_011510504.1:c.539T>C (EDAR)	XP_011508806.1:p.Val180Ala
XM_011510502.2:c.1352T>C (EDAR)	XP_011508804.2:p.Val451Ala
XM_011510503.2:c.1256T>C (EDAR)	XP_011508805.2:p.Val419Ala
XM_017004623.2:c.8370+124096A>G (RANBP2)	XP_016860112.1:n.8370+124096A>G
NM_022336.4:c.1112T>C (EDAR) MANE Select	NP_071731.1:p.Val371Ala