Canonical Allele Identifier: CA3422882

Gene: MYOT PKD2L2-DT

Linked Data

• ClinVar Variation Id: 281070
• ClinVar RCV Id: RCV000306075 ; RCV000360760 ; RCV000381509 ; RCV000852990 ; RCV001085861 ; RCV002519080
• dbSNP Id: rs142416150
• ExAC: 5:137206663 A / C
• gnomAD v2: 5-137206663-A-C
• gnomAD v3: 5-137870974-A-C
• gnomAD v4: 5-137870974-A-C
• MyVariant Identifiers: chr5:g.137206663A>C (hg19) ; chr5:g.137870974A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.137870974A>C , CM000667.2:g.137870974A>C	GRCh38
NC_000005.9:g.137206663A>C , CM000667.1:g.137206663A>C	GRCh37
NC_000005.8:g.137234562A>C	NCBI36
NG_008894.1:g.8119A>C , LRG_201:g.8119A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000239926.9:c.323A>C (MYOT) MANE Select	ENSP00000239926.4:p.Asn108Thr
ENST00000239926.8:c.323A>C (MYOT)	ENSP00000239926.4:p.Asn108Thr
ENST00000421631.6:c.-197+449A>C (MYOT)	ENSP00000391185.2:n.-197+449A>C
ENST00000509812.5:n.179+449A>C (MYOT)
ENST00000511625.5:n.179+449A>C (MYOT)
ENST00000515645.1:c.-23A>C (MYOT)	ENSP00000426281.1:n.-23A>C
NM_001135940.1:c.-197+449A>C (MYOT)	NP_001129412.1:n.-197+449A>C
NM_001300911.1:c.-23A>C (MYOT)	NP_001287840.1:n.-23A>C
NM_006790.2:c.323A>C , LRG_201t1:c.323A>C (MYOT)	NP_006781.1:p.Asn108Thr
XR_948815.1:n.220-11711T>G (PKD2L2-DT)
XR_948816.1:n.58-11711T>G (PKD2L2-DT)
XM_017010060.1:c.-258A>C (MYOT)	XP_016865549.1:n.-258A>C
XM_017010061.1:c.-258A>C (MYOT)	XP_016865550.1:n.-258A>C
XM_017010062.1:c.-225+449A>C (MYOT)	XP_016865551.1:n.-225+449A>C
XR_948815.2:n.347-11711T>G (PKD2L2-DT)
NM_001135940.2:c.-197+449A>C (MYOT)	NP_001129412.1:n.-197+449A>C
NM_001300911.2:c.-23A>C (MYOT)	NP_001287840.1:n.-23A>C
NM_006790.3:c.323A>C (MYOT) MANE Select	NP_006781.1:p.Asn108Thr