Canonical Allele Identifier: CA7285591

Gene: POMT2

Linked Data

• dbSNP Id: rs760608239
• ExAC: 14:77745172 C / A
• gnomAD v2: 14-77745172-C-A
• gnomAD v4: 14-77278829-C-A
• MyVariant Identifiers: chr14:g.77745172C>A (hg19) ; chr14:g.77278829C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278829C>A , CM000676.2:g.77278829C>A	GRCh38
NC_000014.8:g.77745172C>A , CM000676.1:g.77745172C>A	GRCh37
NC_000014.7:g.76814925C>A	NCBI36
NG_008897.1:g.47054G>T , LRG_844:g.47054G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.857G>T
ENST00000556394.2:c.1473G>T	ENSP00000451967.2:p.Leu491=
ENST00000682128.1:c.233G>T	ENSP00000506976.1:n.233G>T
ENST00000682247.1:c.1921G>T	ENSP00000507213.1:p.Ala641Ser
ENST00000682395.1:n.2396G>T
ENST00000682459.1:n.1635G>T
ENST00000682467.1:c.1892-321G>T	ENSP00000508062.1:n.1892-321G>T
ENST00000682615.1:n.286G>T
ENST00000682795.1:c.2079G>T	ENSP00000507574.1:p.Leu693=
ENST00000682895.1:n.1648G>T
ENST00000682955.1:n.1506G>T
ENST00000683095.1:c.338G>T	ENSP00000508040.1:n.338G>T
ENST00000683188.1:c.2193G>T
ENST00000683380.1:n.1596G>T
ENST00000683828.1:c.1641G>T
ENST00000683907.1:c.197G>T	ENSP00000507754.1:p.Cys66Phe
ENST00000684172.1:c.308G>T	ENSP00000508391.1:n.308G>T
ENST00000684259.1:n.3699G>T
ENST00000684538.1:n.1311G>T
ENST00000684549.1:n.1483G>T
ENST00000261534.9:c.1932G>T MANE Select	ENSP00000261534.4:p.Leu644=
ENST00000261534.8:c.1932G>T	ENSP00000261534.4:p.Leu644=
ENST00000452340.7:n.2908G>T
ENST00000554767.5:n.2718G>T
ENST00000555134.1:n.857G>T
ENST00000555710.1:c.293G>T	ENSP00000451730.1:n.293G>T
ENST00000556171.1:c.524G>T
ENST00000556394.1:c.88-321G>T
ENST00000556446.1:n.233G>T
ENST00000602717.5:c.147G>T	ENSP00000487704.1:p.Leu49=
NM_013382.5:c.1932G>T , LRG_844t1:c.1932G>T	NP_037514.2:p.Leu644=
XM_011536675.1:c.2121G>T	XP_011534977.1:p.Leu707=
XM_011536676.1:c.1788G>T	XP_011534978.1:p.Leu596=
XM_011536677.1:c.1662G>T	XP_011534979.1:p.Leu554=
XM_011536679.1:c.1215G>T	XP_011534981.1:p.Leu405=
XR_943416.1:n.2185G>T
XM_011536675.2:c.2121G>T	XP_011534977.1:p.Leu707=
XM_011536676.2:c.1788G>T	XP_011534978.1:p.Leu596=
XM_011536677.3:c.1662G>T	XP_011534979.1:p.Leu554=
XR_001750279.1:n.2218G>T
XR_001750282.1:n.2871G>T
XR_943416.3:n.2183G>T
NM_013382.6:c.1932G>T	NP_037514.2:p.Leu644=
NM_013382.7:c.1932G>T MANE Select	NP_037514.2:p.Leu644=