Canonical Allele Identifier: CA128097447

Gene: MYOT PKD2L2-DT

Linked Data

• ClinVar Variation Id: 2904515
• ClinVar RCV Id: RCV003615570
• dbSNP Id: rs960309994
• gnomAD v2: 5-137206538-C-A
• gnomAD v3: 5-137870849-C-A
• gnomAD v4: 5-137870849-C-A
• MyVariant Identifiers: chr5:g.137206538C>A (hg19) ; chr5:g.137870849C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.137870849C>A , CM000667.2:g.137870849C>A	GRCh38
NC_000005.9:g.137206538C>A , CM000667.1:g.137206538C>A	GRCh37
NC_000005.8:g.137234437C>A	NCBI36
NG_008894.1:g.7994C>A , LRG_201:g.7994C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000239926.9:c.198C>A (MYOT) MANE Select	ENSP00000239926.4:p.Ser66=
ENST00000239926.8:c.198C>A (MYOT)	ENSP00000239926.4:p.Ser66=
ENST00000421631.6:c.-197+324C>A (MYOT)	ENSP00000391185.2:n.-197+324C>A
ENST00000509812.5:n.179+324C>A (MYOT)
ENST00000511625.5:n.179+324C>A (MYOT)
ENST00000515645.1:c.-120-28C>A (MYOT)	ENSP00000426281.1:n.-120-28C>A
NM_001135940.1:c.-197+324C>A (MYOT)	NP_001129412.1:n.-197+324C>A
NM_001300911.1:c.-120-28C>A (MYOT)	NP_001287840.1:n.-120-28C>A
NM_006790.2:c.198C>A , LRG_201t1:c.198C>A (MYOT)	NP_006781.1:p.Ser66=
XR_948815.1:n.220-11586G>T (PKD2L2-DT)
XR_948816.1:n.58-11586G>T (PKD2L2-DT)
XM_017010060.1:c.-355-28C>A (MYOT)	XP_016865549.1:n.-355-28C>A
XM_017010061.1:c.-383C>A (MYOT)	XP_016865550.1:n.-383C>A
XM_017010062.1:c.-225+324C>A (MYOT)	XP_016865551.1:n.-225+324C>A
XR_948815.2:n.347-11586G>T (PKD2L2-DT)
NM_001135940.2:c.-197+324C>A (MYOT)	NP_001129412.1:n.-197+324C>A
NM_001300911.2:c.-120-28C>A (MYOT)	NP_001287840.1:n.-120-28C>A
NM_006790.3:c.198C>A (MYOT) MANE Select	NP_006781.1:p.Ser66=