Canonical Allele Identifier: CA348048055

Gene: EDAR RANBP2

Linked Data

• dbSNP Id: rs1267175902
• gnomAD v2: 2-109513532-T-C
• gnomAD v4: 2-108897076-T-C
• MyVariant Identifiers: chr2:g.109513532T>C (hg19) ; chr2:g.108897076T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108897076T>C , CM000664.2:g.108897076T>C	GRCh38
NC_000002.11:g.109513532T>C , CM000664.1:g.109513532T>C	GRCh37
NC_000002.10:g.108879964T>C	NCBI36
NG_008257.1:g.97297A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000258443.7:c.1178A>G (EDAR) MANE Select	ENSP00000258443.2:p.Asp393Gly
ENST00000258443.6:c.1178A>G (EDAR)	ENSP00000258443.2:p.Asp393Gly
ENST00000376651.1:c.1274A>G (EDAR)	ENSP00000365839.1:p.Asp425Gly
ENST00000409271.5:c.1274A>G (EDAR)	ENSP00000386371.1:p.Asp425Gly
NM_022336.3:c.1178A>G (EDAR)	NP_071731.1:p.Asp393Gly
XM_006712204.1:c.1274A>G (EDAR)	XP_006712267.1:p.Asp425Gly
XM_011510502.1:c.1325A>G (EDAR)	XP_011508804.1:p.Asp442Gly
XM_011510503.1:c.1229A>G (EDAR)	XP_011508805.1:p.Asp410Gly
XM_011510504.1:c.605A>G (EDAR)	XP_011508806.1:p.Asp202Gly
XM_011510502.2:c.1418A>G (EDAR)	XP_011508804.2:p.Asp473Gly
XM_011510503.2:c.1322A>G (EDAR)	XP_011508805.2:p.Asp441Gly
XM_017004623.2:c.8370+124030T>C (RANBP2)	XP_016860112.1:n.8370+124030T>C
NM_022336.4:c.1178A>G (EDAR) MANE Select	NP_071731.1:p.Asp393Gly