Canonical Allele Identifier: CA390513721

Gene: POMT2

Linked Data

• gnomAD v4: 14-77278736-C-A
• MyVariant Identifiers: chr14:g.77745079C>A (hg19) ; chr14:g.77278736C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278736C>A , CM000676.2:g.77278736C>A	GRCh38
NC_000014.8:g.77745079C>A , CM000676.1:g.77745079C>A	GRCh37
NC_000014.7:g.76814832C>A	NCBI36
NG_008897.1:g.47147G>T , LRG_844:g.47147G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.950G>T
ENST00000556394.2:c.1566G>T	ENSP00000451967.2:p.Met522Ile
ENST00000682128.1:c.326G>T	ENSP00000506976.1:n.326G>T
ENST00000682247.1:c.2014G>T	ENSP00000507213.1:p.Val672Phe
ENST00000682395.1:n.2489G>T
ENST00000682459.1:n.1728G>T
ENST00000682467.1:c.1892-228G>T	ENSP00000508062.1:n.1892-228G>T
ENST00000682615.1:n.379G>T
ENST00000682795.1:c.2172G>T	ENSP00000507574.1:p.Met724Ile
ENST00000682895.1:n.1741G>T
ENST00000682955.1:n.1599G>T
ENST00000683095.1:c.431G>T	ENSP00000508040.1:n.431G>T
ENST00000683188.1:c.2286G>T
ENST00000683380.1:n.1689G>T
ENST00000683907.1:c.290G>T	ENSP00000507754.1:n.290G>T
ENST00000684172.1:c.401G>T	ENSP00000508391.1:n.401G>T
ENST00000684259.1:n.3792G>T
ENST00000684538.1:n.1404G>T
ENST00000684549.1:n.1576G>T
ENST00000261534.9:c.2025G>T MANE Select	ENSP00000261534.4:p.Met675Ile
ENST00000261534.8:c.2025G>T	ENSP00000261534.4:p.Met675Ile
ENST00000452340.7:n.3001G>T
ENST00000554767.5:n.2811G>T
ENST00000555710.1:c.386G>T	ENSP00000451730.1:n.386G>T
ENST00000556394.1:c.88-228G>T
ENST00000556446.1:n.326G>T
ENST00000602717.5:c.240G>T	ENSP00000487704.1:p.Met80Ile
NM_013382.5:c.2025G>T , LRG_844t1:c.2025G>T	NP_037514.2:p.Met675Ile
XM_011536675.1:c.2214G>T	XP_011534977.1:p.Met738Ile
XM_011536676.1:c.1881G>T	XP_011534978.1:p.Met627Ile
XM_011536677.1:c.1755G>T	XP_011534979.1:p.Met585Ile
XM_011536679.1:c.1308G>T	XP_011534981.1:p.Met436Ile
XR_943416.1:n.2278G>T
XM_011536675.2:c.2214G>T	XP_011534977.1:p.Met738Ile
XM_011536676.2:c.1881G>T	XP_011534978.1:p.Met627Ile
XM_011536677.3:c.1755G>T	XP_011534979.1:p.Met585Ile
XR_001750279.1:n.2311G>T
XR_001750282.1:n.2964G>T
XR_943416.3:n.2276G>T
NM_013382.6:c.2025G>T	NP_037514.2:p.Met675Ile
NM_013382.7:c.2025G>T MANE Select	NP_037514.2:p.Met675Ile