Canonical Allele Identifier: CA222975

Gene: MYOT PKD2L2-DT

Linked Data

• ClinVar Variation Id: 95438
• ClinVar RCV Id: RCV003330427 ; RCV003925069
• dbSNP Id: rs139254363
• ExAC: 5:137206460 T / A
• gnomAD v2: 5-137206460-T-A
• gnomAD v3: 5-137870771-T-A
• gnomAD v4: 5-137870771-T-A
• MyVariant Identifiers: chr5:g.137206460T>A (hg19) ; chr5:g.137870771T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.137870771T>A , CM000667.2:g.137870771T>A	GRCh38
NC_000005.9:g.137206460T>A , CM000667.1:g.137206460T>A	GRCh37
NC_000005.8:g.137234359T>A	NCBI36
NG_008894.1:g.7916T>A , LRG_201:g.7916T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000239926.9:c.120T>A (MYOT) MANE Select	ENSP00000239926.4:p.Ile40=
ENST00000239926.8:c.120T>A (MYOT)	ENSP00000239926.4:p.Ile40=
ENST00000421631.6:c.-197+246T>A (MYOT)	ENSP00000391185.2:n.-197+246T>A
ENST00000509812.5:n.179+246T>A (MYOT)
ENST00000511625.5:n.179+246T>A (MYOT)
ENST00000515645.1:c.-120-106T>A (MYOT)	ENSP00000426281.1:n.-120-106T>A
NM_001135940.1:c.-197+246T>A (MYOT)	NP_001129412.1:n.-197+246T>A
NM_001300911.1:c.-120-106T>A (MYOT)	NP_001287840.1:n.-120-106T>A
NM_006790.2:c.120T>A , LRG_201t1:c.120T>A (MYOT)	NP_006781.1:p.Ile40=
XR_948815.1:n.220-11508A>T (PKD2L2-DT)
XR_948816.1:n.58-11508A>T (PKD2L2-DT)
XM_017010060.1:c.-355-106T>A (MYOT)	XP_016865549.1:n.-355-106T>A
XM_017010061.1:c.-461T>A (MYOT)	XP_016865550.1:n.-461T>A
XM_017010062.1:c.-225+246T>A (MYOT)	XP_016865551.1:n.-225+246T>A
XR_948815.2:n.347-11508A>T (PKD2L2-DT)
NM_001135940.2:c.-197+246T>A (MYOT)	NP_001129412.1:n.-197+246T>A
NM_001300911.2:c.-120-106T>A (MYOT)	NP_001287840.1:n.-120-106T>A
NM_006790.3:c.120T>A (MYOT) MANE Select	NP_006781.1:p.Ile40=