Canonical Allele Identifier: CA234299

Gene: MYOT PKD2L2-DT

Linked Data

• ClinVar Variation Id: 167318
• ClinVar RCV Id: RCV000323304 ; RCV000378013 ; RCV000723809 ; RCV001437646 ; RCV004019839
• dbSNP Id: rs78633961
• ExAC: 5:137222565 T / A
• gnomAD v2: 5-137222565-T-A
• gnomAD v3: 5-137886876-T-A
• gnomAD v4: 5-137886876-T-A
• MyVariant Identifiers: chr5:g.137222565T>A (hg19) ; chr5:g.137886876T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.137886876T>A , CM000667.2:g.137886876T>A	GRCh38
NC_000005.9:g.137222565T>A , CM000667.1:g.137222565T>A	GRCh37
NC_000005.8:g.137250464T>A	NCBI36
NG_008894.1:g.24021T>A , LRG_201:g.24021T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000239926.9:c.1203T>A (MYOT) MANE Select	ENSP00000239926.4:p.Asp401Glu
ENST00000239926.8:c.1203T>A (MYOT)	ENSP00000239926.4:p.Asp401Glu
ENST00000421631.6:c.651T>A (MYOT)	ENSP00000391185.2:p.Asp217Glu
ENST00000508938.1:n.177T>A (MYOT)
ENST00000515645.1:c.858T>A (MYOT)	ENSP00000426281.1:p.Asp286Glu
NM_001135940.1:c.651T>A (MYOT)	NP_001129412.1:p.Asp217Glu
NM_001300911.1:c.858T>A (MYOT)	NP_001287840.1:p.Asp286Glu
NM_006790.2:c.1203T>A , LRG_201t1:c.1203T>A (MYOT)	NP_006781.1:p.Asp401Glu
XR_948815.1:n.219+1284A>T (PKD2L2-DT)
XR_948816.1:n.57+2271A>T (PKD2L2-DT)
XM_017010060.1:c.618T>A (MYOT)	XP_016865549.1:p.Asp206Glu
XM_017010061.1:c.618T>A (MYOT)	XP_016865550.1:p.Asp206Glu
XM_017010062.1:c.618T>A (MYOT)	XP_016865551.1:p.Asp206Glu
XR_948815.2:n.346+1284A>T (PKD2L2-DT)
NM_001135940.2:c.651T>A (MYOT)	NP_001129412.1:p.Asp217Glu
NM_001300911.2:c.858T>A (MYOT)	NP_001287840.1:p.Asp286Glu
NM_006790.3:c.1203T>A (MYOT) MANE Select	NP_006781.1:p.Asp401Glu