Canonical Allele Identifier: CA390513532

Gene: POMT2

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.1002G>T
ENST00000556394.2:c.1618G>T	ENSP00000451967.2:p.Ala540Ser
ENST00000682247.1:c.2066G>T	ENSP00000507213.1:p.Gly689Val
ENST00000682395.1:n.2541G>T
ENST00000682459.1:n.1780G>T
ENST00000682467.1:c.1936G>T	ENSP00000508062.1:p.Ala646Ser
ENST00000682795.1:c.2224G>T	ENSP00000507574.1:p.Ala742Ser
ENST00000682895.1:n.1793G>T
ENST00000682955.1:n.1651G>T
ENST00000683188.1:c.2338G>T
ENST00000683380.1:n.1741G>T
ENST00000683907.1:c.342G>T	ENSP00000507754.1:n.342G>T
ENST00000684259.1:n.3844G>T
ENST00000684538.1:n.1456G>T
ENST00000684549.1:n.1628G>T
ENST00000261534.9:c.2077G>T MANE Select	ENSP00000261534.4:p.Ala693Ser
ENST00000261534.8:c.2077G>T	ENSP00000261534.4:p.Ala693Ser
ENST00000452340.7:n.3053G>T
ENST00000554767.5:n.2863G>T
ENST00000555710.1:c.438G>T	ENSP00000451730.1:n.438G>T
ENST00000556394.1:c.132G>T
ENST00000556446.1:n.378G>T
ENST00000602717.5:c.292G>T	ENSP00000487704.1:p.Ala98Ser
NM_013382.5:c.2077G>T , LRG_844t1:c.2077G>T	NP_037514.2:p.Ala693Ser
XM_011536675.1:c.2266G>T	XP_011534977.1:p.Ala756Ser
XM_011536676.1:c.1933G>T	XP_011534978.1:p.Ala645Ser
XM_011536677.1:c.1807G>T	XP_011534979.1:p.Ala603Ser
XM_011536679.1:c.1360G>T	XP_011534981.1:p.Ala454Ser
XR_943416.1:n.2330G>T
XM_011536675.2:c.2266G>T	XP_011534977.1:p.Ala756Ser
XM_011536676.2:c.1933G>T	XP_011534978.1:p.Ala645Ser
XM_011536677.3:c.1807G>T	XP_011534979.1:p.Ala603Ser
XR_001750279.1:n.2363G>T
XR_001750282.1:n.3016G>T
XR_943416.3:n.2328G>T
NM_013382.6:c.2077G>T	NP_037514.2:p.Ala693Ser
NM_013382.7:c.2077G>T MANE Select	NP_037514.2:p.Ala693Ser