Canonical Allele Identifier: CA390514043

Gene: POMT2

Linked Data

• gnomAD v4: 14-77278811-A-C
• MyVariant Identifiers: chr14:g.77745154A>C (hg19) ; chr14:g.77278811A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278811A>C , CM000676.2:g.77278811A>C	GRCh38
NC_000014.8:g.77745154A>C , CM000676.1:g.77745154A>C	GRCh37
NC_000014.7:g.76814907A>C	NCBI36
NG_008897.1:g.47072T>G , LRG_844:g.47072T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.875T>G
ENST00000556394.2:c.1491T>G	ENSP00000451967.2:p.His497Gln
ENST00000682128.1:c.251T>G	ENSP00000506976.1:n.251T>G
ENST00000682247.1:c.1939T>G	ENSP00000507213.1:p.Leu647Val
ENST00000682395.1:n.2414T>G
ENST00000682459.1:n.1653T>G
ENST00000682467.1:c.1892-303T>G	ENSP00000508062.1:n.1892-303T>G
ENST00000682615.1:n.304T>G
ENST00000682795.1:c.2097T>G	ENSP00000507574.1:p.His699Gln
ENST00000682895.1:n.1666T>G
ENST00000682955.1:n.1524T>G
ENST00000683095.1:c.356T>G	ENSP00000508040.1:n.356T>G
ENST00000683188.1:c.2211T>G
ENST00000683380.1:n.1614T>G
ENST00000683828.1:c.1659T>G
ENST00000683907.1:c.215T>G	ENSP00000507754.1:p.Ile72Ser
ENST00000684172.1:c.326T>G	ENSP00000508391.1:n.326T>G
ENST00000684259.1:n.3717T>G
ENST00000684538.1:n.1329T>G
ENST00000684549.1:n.1501T>G
ENST00000261534.9:c.1950T>G MANE Select	ENSP00000261534.4:p.His650Gln
ENST00000261534.8:c.1950T>G	ENSP00000261534.4:p.His650Gln
ENST00000452340.7:n.2926T>G
ENST00000554767.5:n.2736T>G
ENST00000555710.1:c.311T>G	ENSP00000451730.1:n.311T>G
ENST00000556171.1:c.542T>G
ENST00000556394.1:c.88-303T>G
ENST00000556446.1:n.251T>G
ENST00000602717.5:c.165T>G	ENSP00000487704.1:p.His55Gln
NM_013382.5:c.1950T>G , LRG_844t1:c.1950T>G	NP_037514.2:p.His650Gln
XM_011536675.1:c.2139T>G	XP_011534977.1:p.His713Gln
XM_011536676.1:c.1806T>G	XP_011534978.1:p.His602Gln
XM_011536677.1:c.1680T>G	XP_011534979.1:p.His560Gln
XM_011536679.1:c.1233T>G	XP_011534981.1:p.His411Gln
XR_943416.1:n.2203T>G
XM_011536675.2:c.2139T>G	XP_011534977.1:p.His713Gln
XM_011536676.2:c.1806T>G	XP_011534978.1:p.His602Gln
XM_011536677.3:c.1680T>G	XP_011534979.1:p.His560Gln
XR_001750279.1:n.2236T>G
XR_001750282.1:n.2889T>G
XR_943416.3:n.2201T>G
NM_013382.6:c.1950T>G	NP_037514.2:p.His650Gln
NM_013382.7:c.1950T>G MANE Select	NP_037514.2:p.His650Gln