Canonical Allele Identifier: CA390513561

Gene: POMT2

Linked Data

• gnomAD v4: 14-77278471-C-A
• MyVariant Identifiers: chr14:g.77744814C>A (hg19) ; chr14:g.77278471C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278471C>A , CM000676.2:g.77278471C>A	GRCh38
NC_000014.8:g.77744814C>A , CM000676.1:g.77744814C>A	GRCh37
NC_000014.7:g.76814567C>A	NCBI36
NG_008897.1:g.47412G>T , LRG_844:g.47412G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.995G>T
ENST00000556394.2:c.1611G>T	ENSP00000451967.2:p.Trp537Cys
ENST00000682247.1:c.2059G>T	ENSP00000507213.1:p.Gly687Trp
ENST00000682395.1:n.2534G>T
ENST00000682459.1:n.1773G>T
ENST00000682467.1:c.1929G>T	ENSP00000508062.1:p.Trp643Cys
ENST00000682795.1:c.2217G>T	ENSP00000507574.1:p.Trp739Cys
ENST00000682895.1:n.1786G>T
ENST00000682955.1:n.1644G>T
ENST00000683188.1:c.2331G>T
ENST00000683380.1:n.1734G>T
ENST00000683907.1:c.335G>T	ENSP00000507754.1:n.335G>T
ENST00000684259.1:n.3837G>T
ENST00000684538.1:n.1449G>T
ENST00000684549.1:n.1621G>T
ENST00000261534.9:c.2070G>T MANE Select	ENSP00000261534.4:p.Trp690Cys
ENST00000261534.8:c.2070G>T	ENSP00000261534.4:p.Trp690Cys
ENST00000452340.7:n.3046G>T
ENST00000554767.5:n.2856G>T
ENST00000555710.1:c.431G>T	ENSP00000451730.1:n.431G>T
ENST00000556394.1:c.125G>T
ENST00000556446.1:n.371G>T
ENST00000602717.5:c.285G>T	ENSP00000487704.1:p.Trp95Cys
NM_013382.5:c.2070G>T , LRG_844t1:c.2070G>T	NP_037514.2:p.Trp690Cys
XM_011536675.1:c.2259G>T	XP_011534977.1:p.Trp753Cys
XM_011536676.1:c.1926G>T	XP_011534978.1:p.Trp642Cys
XM_011536677.1:c.1800G>T	XP_011534979.1:p.Trp600Cys
XM_011536679.1:c.1353G>T	XP_011534981.1:p.Trp451Cys
XR_943416.1:n.2323G>T
XM_011536675.2:c.2259G>T	XP_011534977.1:p.Trp753Cys
XM_011536676.2:c.1926G>T	XP_011534978.1:p.Trp642Cys
XM_011536677.3:c.1800G>T	XP_011534979.1:p.Trp600Cys
XR_001750279.1:n.2356G>T
XR_001750282.1:n.3009G>T
XR_943416.3:n.2321G>T
NM_013382.6:c.2070G>T	NP_037514.2:p.Trp690Cys
NM_013382.7:c.2070G>T MANE Select	NP_037514.2:p.Trp690Cys