Canonical Allele Identifier: CA1825252

Gene: EDAR RANBP2

Linked Data

• dbSNP Id: rs779402865
• ExAC: 2:109547435 C / T
• gnomAD v2: 2-109547435-C-T
• gnomAD v4: 2-108930979-C-T
• MyVariant Identifiers: chr2:g.109547435C>T (hg19) ; chr2:g.108930979C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108930979C>T , CM000664.2:g.108930979C>T	GRCh38
NC_000002.11:g.109547435C>T , CM000664.1:g.109547435C>T	GRCh37
NC_000002.10:g.108913867C>T	NCBI36
NG_008257.1:g.63394G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258443.7:c.36G>A (EDAR) MANE Select	ENSP00000258443.2:p.Trp12Ter
ENST00000258443.6:c.36G>A (EDAR)	ENSP00000258443.2:p.Trp12Ter
ENST00000376651.1:c.36G>A (EDAR)	ENSP00000365839.1:p.Trp12Ter
ENST00000409271.5:c.36G>A (EDAR)	ENSP00000386371.1:p.Trp12Ter
NM_022336.3:c.36G>A (EDAR)	NP_071731.1:p.Trp12Ter
XM_006712204.1:c.36G>A (EDAR)	XP_006712267.1:p.Trp12Ter
XM_011510502.1:c.87G>A (EDAR)	XP_011508804.1:p.Trp29Ter
XM_011510503.1:c.87G>A (EDAR)	XP_011508805.1:p.Trp29Ter
XM_011510502.2:c.180G>A (EDAR)	XP_011508804.2:p.Trp60Ter
XM_011510503.2:c.180G>A (EDAR)	XP_011508805.2:p.Trp60Ter
XM_017004623.2:c.8370+157933C>T (RANBP2)	XP_016860112.1:n.8370+157933C>T
NM_022336.4:c.36G>A (EDAR) MANE Select	NP_071731.1:p.Trp12Ter