Canonical Allele Identifier: CA390513496

Gene: POMT2

Linked Data

• ClinVar Variation Id: 569111
• ClinVar RCV Id: RCV000689655
• dbSNP Id: rs1449000965
• gnomAD v2: 14-77744797-G-A
• gnomAD v4: 14-77278454-G-A
• MyVariant Identifiers: chr14:g.77744797G>A (hg19) ; chr14:g.77278454G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278454G>A , CM000676.2:g.77278454G>A	GRCh38
NC_000014.8:g.77744797G>A , CM000676.1:g.77744797G>A	GRCh37
NC_000014.7:g.76814550G>A	NCBI36
NG_008897.1:g.47429C>T , LRG_844:g.47429C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.1012C>T
ENST00000556394.2:c.1628C>T	ENSP00000451967.2:p.Pro543Leu
ENST00000682247.1:c.2076C>T	ENSP00000507213.1:p.Ala692=
ENST00000682395.1:n.2551C>T
ENST00000682459.1:n.1790C>T
ENST00000682467.1:c.1946C>T	ENSP00000508062.1:p.Pro649Leu
ENST00000682795.1:c.2234C>T	ENSP00000507574.1:p.Pro745Leu
ENST00000682895.1:n.1803C>T
ENST00000682955.1:n.1661C>T
ENST00000683188.1:c.2348C>T
ENST00000683380.1:n.1751C>T
ENST00000683907.1:c.352C>T	ENSP00000507754.1:n.352C>T
ENST00000684259.1:n.3854C>T
ENST00000684538.1:n.1466C>T
ENST00000684549.1:n.1638C>T
ENST00000261534.9:c.2087C>T MANE Select	ENSP00000261534.4:p.Pro696Leu
ENST00000261534.8:c.2087C>T	ENSP00000261534.4:p.Pro696Leu
ENST00000452340.7:n.3063C>T
ENST00000554767.5:n.2873C>T
ENST00000555710.1:c.448C>T	ENSP00000451730.1:n.448C>T
ENST00000556394.1:c.142C>T
ENST00000556446.1:n.388C>T
ENST00000602717.5:c.302C>T	ENSP00000487704.1:p.Pro101Leu
NM_013382.5:c.2087C>T , LRG_844t1:c.2087C>T	NP_037514.2:p.Pro696Leu
XM_011536675.1:c.2276C>T	XP_011534977.1:p.Pro759Leu
XM_011536676.1:c.1943C>T	XP_011534978.1:p.Pro648Leu
XM_011536677.1:c.1817C>T	XP_011534979.1:p.Pro606Leu
XM_011536679.1:c.1370C>T	XP_011534981.1:p.Pro457Leu
XR_943416.1:n.2340C>T
XM_011536675.2:c.2276C>T	XP_011534977.1:p.Pro759Leu
XM_011536676.2:c.1943C>T	XP_011534978.1:p.Pro648Leu
XM_011536677.3:c.1817C>T	XP_011534979.1:p.Pro606Leu
XR_001750279.1:n.2373C>T
XR_001750282.1:n.3026C>T
XR_943416.3:n.2338C>T
NM_013382.6:c.2087C>T	NP_037514.2:p.Pro696Leu
NM_013382.7:c.2087C>T MANE Select	NP_037514.2:p.Pro696Leu