Canonical Allele Identifier: CA390513651

Gene: POMT2

Linked Data

• dbSNP Id: rs1594883407
• MyVariant Identifiers: chr14:g.77744837T>G (hg19) ; chr14:g.77278494T>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.972A>C
ENST00000556394.2:c.1588A>C	ENSP00000451967.2:p.Thr530Pro
ENST00000682247.1:c.2036A>C	ENSP00000507213.1:p.His679Pro
ENST00000682395.1:n.2511A>C
ENST00000682459.1:n.1750A>C
ENST00000682467.1:c.1906A>C	ENSP00000508062.1:p.Thr636Pro
ENST00000682795.1:c.2194A>C	ENSP00000507574.1:p.Thr732Pro
ENST00000682895.1:n.1763A>C
ENST00000682955.1:n.1621A>C
ENST00000683188.1:c.2308A>C
ENST00000683380.1:n.1711A>C
ENST00000683907.1:c.312A>C	ENSP00000507754.1:n.312A>C
ENST00000684259.1:n.3814A>C
ENST00000684538.1:n.1426A>C
ENST00000684549.1:n.1598A>C
ENST00000261534.9:c.2047A>C MANE Select	ENSP00000261534.4:p.Thr683Pro
ENST00000261534.8:c.2047A>C	ENSP00000261534.4:p.Thr683Pro
ENST00000452340.7:n.3023A>C
ENST00000554767.5:n.2833A>C
ENST00000555710.1:c.408A>C	ENSP00000451730.1:n.408A>C
ENST00000556394.1:c.102A>C
ENST00000556446.1:n.348A>C
ENST00000602717.5:c.262A>C	ENSP00000487704.1:p.Thr88Pro
NM_013382.5:c.2047A>C , LRG_844t1:c.2047A>C	NP_037514.2:p.Thr683Pro
XM_011536675.1:c.2236A>C	XP_011534977.1:p.Thr746Pro
XM_011536676.1:c.1903A>C	XP_011534978.1:p.Thr635Pro
XM_011536677.1:c.1777A>C	XP_011534979.1:p.Thr593Pro
XM_011536679.1:c.1330A>C	XP_011534981.1:p.Thr444Pro
XR_943416.1:n.2300A>C
XM_011536675.2:c.2236A>C	XP_011534977.1:p.Thr746Pro
XM_011536676.2:c.1903A>C	XP_011534978.1:p.Thr635Pro
XM_011536677.3:c.1777A>C	XP_011534979.1:p.Thr593Pro
XR_001750279.1:n.2333A>C
XR_001750282.1:n.2986A>C
XR_943416.3:n.2298A>C
NM_013382.6:c.2047A>C	NP_037514.2:p.Thr683Pro
NM_013382.7:c.2047A>C MANE Select	NP_037514.2:p.Thr683Pro