Canonical Allele Identifier: CA428203988

Gene: EDAR RANBP2

Linked Data

• dbSNP Id: rs1162538019
• gnomAD v2: 2-109513483-A-C
• gnomAD v3: 2-108897027-A-C
• gnomAD v4: 2-108897027-A-C
• MyVariant Identifiers: chr2:g.109513483A>C (hg19) ; chr2:g.108897027A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108897027A>C , CM000664.2:g.108897027A>C	GRCh38
NC_000002.11:g.109513483A>C , CM000664.1:g.109513483A>C	GRCh37
NC_000002.10:g.108879915A>C	NCBI36
NG_008257.1:g.97346T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258443.7:c.1227T>G (EDAR) MANE Select	ENSP00000258443.2:p.Pro409=
ENST00000258443.6:c.1227T>G (EDAR)	ENSP00000258443.2:p.Pro409=
ENST00000376651.1:c.1323T>G (EDAR)	ENSP00000365839.1:p.Pro441=
ENST00000409271.5:c.1323T>G (EDAR)	ENSP00000386371.1:p.Pro441=
NM_022336.3:c.1227T>G (EDAR)	NP_071731.1:p.Pro409=
XM_006712204.1:c.1323T>G (EDAR)	XP_006712267.1:p.Pro441=
XM_011510502.1:c.1374T>G (EDAR)	XP_011508804.1:p.Pro458=
XM_011510503.1:c.1278T>G (EDAR)	XP_011508805.1:p.Pro426=
XM_011510504.1:c.654T>G (EDAR)	XP_011508806.1:p.Pro218=
XM_011510502.2:c.1467T>G (EDAR)	XP_011508804.2:p.Pro489=
XM_011510503.2:c.1371T>G (EDAR)	XP_011508805.2:p.Pro457=
XM_017004623.2:c.8370+123981A>C (RANBP2)	XP_016860112.1:n.8370+123981A>C
NM_022336.4:c.1227T>G (EDAR) MANE Select	NP_071731.1:p.Pro409=