Canonical Allele Identifier: CA390513649

Gene: POMT2

Linked Data

• gnomAD v4: 14-77278494-T-C
• MyVariant Identifiers: chr14:g.77744837T>C (hg19) ; chr14:g.77278494T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278494T>C , CM000676.2:g.77278494T>C	GRCh38
NC_000014.8:g.77744837T>C , CM000676.1:g.77744837T>C	GRCh37
NC_000014.7:g.76814590T>C	NCBI36
NG_008897.1:g.47389A>G , LRG_844:g.47389A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.972A>G
ENST00000556394.2:c.1588A>G	ENSP00000451967.2:p.Thr530Ala
ENST00000682247.1:c.2036A>G	ENSP00000507213.1:p.His679Arg
ENST00000682395.1:n.2511A>G
ENST00000682459.1:n.1750A>G
ENST00000682467.1:c.1906A>G	ENSP00000508062.1:p.Thr636Ala
ENST00000682795.1:c.2194A>G	ENSP00000507574.1:p.Thr732Ala
ENST00000682895.1:n.1763A>G
ENST00000682955.1:n.1621A>G
ENST00000683188.1:c.2308A>G
ENST00000683380.1:n.1711A>G
ENST00000683907.1:c.312A>G	ENSP00000507754.1:n.312A>G
ENST00000684259.1:n.3814A>G
ENST00000684538.1:n.1426A>G
ENST00000684549.1:n.1598A>G
ENST00000261534.9:c.2047A>G MANE Select	ENSP00000261534.4:p.Thr683Ala
ENST00000261534.8:c.2047A>G	ENSP00000261534.4:p.Thr683Ala
ENST00000452340.7:n.3023A>G
ENST00000554767.5:n.2833A>G
ENST00000555710.1:c.408A>G	ENSP00000451730.1:n.408A>G
ENST00000556394.1:c.102A>G
ENST00000556446.1:n.348A>G
ENST00000602717.5:c.262A>G	ENSP00000487704.1:p.Thr88Ala
NM_013382.5:c.2047A>G , LRG_844t1:c.2047A>G	NP_037514.2:p.Thr683Ala
XM_011536675.1:c.2236A>G	XP_011534977.1:p.Thr746Ala
XM_011536676.1:c.1903A>G	XP_011534978.1:p.Thr635Ala
XM_011536677.1:c.1777A>G	XP_011534979.1:p.Thr593Ala
XM_011536679.1:c.1330A>G	XP_011534981.1:p.Thr444Ala
XR_943416.1:n.2300A>G
XM_011536675.2:c.2236A>G	XP_011534977.1:p.Thr746Ala
XM_011536676.2:c.1903A>G	XP_011534978.1:p.Thr635Ala
XM_011536677.3:c.1777A>G	XP_011534979.1:p.Thr593Ala
XR_001750279.1:n.2333A>G
XR_001750282.1:n.2986A>G
XR_943416.3:n.2298A>G
NM_013382.6:c.2047A>G	NP_037514.2:p.Thr683Ala
NM_013382.7:c.2047A>G MANE Select	NP_037514.2:p.Thr683Ala