Canonical Allele Identifier: CA390513536

Gene: POMT2

Linked Data

• gnomAD v4: 14-77278464-C-T
• MyVariant Identifiers: chr14:g.77744807C>T (hg19) ; chr14:g.77278464C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278464C>T , CM000676.2:g.77278464C>T	GRCh38
NC_000014.8:g.77744807C>T , CM000676.1:g.77744807C>T	GRCh37
NC_000014.7:g.76814560C>T	NCBI36
NG_008897.1:g.47419G>A , LRG_844:g.47419G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.1002G>A
ENST00000556394.2:c.1618G>A	ENSP00000451967.2:p.Ala540Thr
ENST00000682247.1:c.2066G>A	ENSP00000507213.1:p.Gly689Asp
ENST00000682395.1:n.2541G>A
ENST00000682459.1:n.1780G>A
ENST00000682467.1:c.1936G>A	ENSP00000508062.1:p.Ala646Thr
ENST00000682795.1:c.2224G>A	ENSP00000507574.1:p.Ala742Thr
ENST00000682895.1:n.1793G>A
ENST00000682955.1:n.1651G>A
ENST00000683188.1:c.2338G>A
ENST00000683380.1:n.1741G>A
ENST00000683907.1:c.342G>A	ENSP00000507754.1:n.342G>A
ENST00000684259.1:n.3844G>A
ENST00000684538.1:n.1456G>A
ENST00000684549.1:n.1628G>A
ENST00000261534.9:c.2077G>A MANE Select	ENSP00000261534.4:p.Ala693Thr
ENST00000261534.8:c.2077G>A	ENSP00000261534.4:p.Ala693Thr
ENST00000452340.7:n.3053G>A
ENST00000554767.5:n.2863G>A
ENST00000555710.1:c.438G>A	ENSP00000451730.1:n.438G>A
ENST00000556394.1:c.132G>A
ENST00000556446.1:n.378G>A
ENST00000602717.5:c.292G>A	ENSP00000487704.1:p.Ala98Thr
NM_013382.5:c.2077G>A , LRG_844t1:c.2077G>A	NP_037514.2:p.Ala693Thr
XM_011536675.1:c.2266G>A	XP_011534977.1:p.Ala756Thr
XM_011536676.1:c.1933G>A	XP_011534978.1:p.Ala645Thr
XM_011536677.1:c.1807G>A	XP_011534979.1:p.Ala603Thr
XM_011536679.1:c.1360G>A	XP_011534981.1:p.Ala454Thr
XR_943416.1:n.2330G>A
XM_011536675.2:c.2266G>A	XP_011534977.1:p.Ala756Thr
XM_011536676.2:c.1933G>A	XP_011534978.1:p.Ala645Thr
XM_011536677.3:c.1807G>A	XP_011534979.1:p.Ala603Thr
XR_001750279.1:n.2363G>A
XR_001750282.1:n.3016G>A
XR_943416.3:n.2328G>A
NM_013382.6:c.2077G>A	NP_037514.2:p.Ala693Thr
NM_013382.7:c.2077G>A MANE Select	NP_037514.2:p.Ala693Thr