Canonical Allele Identifier: CA348050706

Gene: EDAR RANBP2

Linked Data

• MyVariant Identifiers: chr2:g.109524321C>G (hg19) ; chr2:g.108907865C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108907865C>G , CM000664.2:g.108907865C>G	GRCh38
NC_000002.11:g.109524321C>G , CM000664.1:g.109524321C>G	GRCh37
NC_000002.10:g.108890753C>G	NCBI36
NG_008257.1:g.86508G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000258443.7:c.958G>C (EDAR) MANE Select	ENSP00000258443.2:p.Ala320Pro
ENST00000258443.6:c.958G>C (EDAR)	ENSP00000258443.2:p.Ala320Pro
ENST00000376651.1:c.1054G>C (EDAR)	ENSP00000365839.1:p.Ala352Pro
ENST00000409271.5:c.1054G>C (EDAR)	ENSP00000386371.1:p.Ala352Pro
NM_022336.3:c.958G>C (EDAR)	NP_071731.1:p.Ala320Pro
XM_006712204.1:c.1054G>C (EDAR)	XP_006712267.1:p.Ala352Pro
XM_011510502.1:c.1105G>C (EDAR)	XP_011508804.1:p.Ala369Pro
XM_011510503.1:c.1009G>C (EDAR)	XP_011508805.1:p.Ala337Pro
XM_011510504.1:c.385G>C (EDAR)	XP_011508806.1:p.Ala129Pro
XM_011510502.2:c.1198G>C (EDAR)	XP_011508804.2:p.Ala400Pro
XM_011510503.2:c.1102G>C (EDAR)	XP_011508805.2:p.Ala368Pro
XM_017004623.2:c.8370+134819C>G (RANBP2)	XP_016860112.1:n.8370+134819C>G
NM_022336.4:c.958G>C (EDAR) MANE Select	NP_071731.1:p.Ala320Pro