Canonical Allele Identifier: CA390513533

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77744807C>G (hg19) ; chr14:g.77278464C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278464C>G , CM000676.2:g.77278464C>G	GRCh38
NC_000014.8:g.77744807C>G , CM000676.1:g.77744807C>G	GRCh37
NC_000014.7:g.76814560C>G	NCBI36
NG_008897.1:g.47419G>C , LRG_844:g.47419G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.1002G>C
ENST00000556394.2:c.1618G>C	ENSP00000451967.2:p.Ala540Pro
ENST00000682247.1:c.2066G>C	ENSP00000507213.1:p.Gly689Ala
ENST00000682395.1:n.2541G>C
ENST00000682459.1:n.1780G>C
ENST00000682467.1:c.1936G>C	ENSP00000508062.1:p.Ala646Pro
ENST00000682795.1:c.2224G>C	ENSP00000507574.1:p.Ala742Pro
ENST00000682895.1:n.1793G>C
ENST00000682955.1:n.1651G>C
ENST00000683188.1:c.2338G>C
ENST00000683380.1:n.1741G>C
ENST00000683907.1:c.342G>C	ENSP00000507754.1:n.342G>C
ENST00000684259.1:n.3844G>C
ENST00000684538.1:n.1456G>C
ENST00000684549.1:n.1628G>C
ENST00000261534.9:c.2077G>C MANE Select	ENSP00000261534.4:p.Ala693Pro
ENST00000261534.8:c.2077G>C	ENSP00000261534.4:p.Ala693Pro
ENST00000452340.7:n.3053G>C
ENST00000554767.5:n.2863G>C
ENST00000555710.1:c.438G>C	ENSP00000451730.1:n.438G>C
ENST00000556394.1:c.132G>C
ENST00000556446.1:n.378G>C
ENST00000602717.5:c.292G>C	ENSP00000487704.1:p.Ala98Pro
NM_013382.5:c.2077G>C , LRG_844t1:c.2077G>C	NP_037514.2:p.Ala693Pro
XM_011536675.1:c.2266G>C	XP_011534977.1:p.Ala756Pro
XM_011536676.1:c.1933G>C	XP_011534978.1:p.Ala645Pro
XM_011536677.1:c.1807G>C	XP_011534979.1:p.Ala603Pro
XM_011536679.1:c.1360G>C	XP_011534981.1:p.Ala454Pro
XR_943416.1:n.2330G>C
XM_011536675.2:c.2266G>C	XP_011534977.1:p.Ala756Pro
XM_011536676.2:c.1933G>C	XP_011534978.1:p.Ala645Pro
XM_011536677.3:c.1807G>C	XP_011534979.1:p.Ala603Pro
XR_001750279.1:n.2363G>C
XR_001750282.1:n.3016G>C
XR_943416.3:n.2328G>C
NM_013382.6:c.2077G>C	NP_037514.2:p.Ala693Pro
NM_013382.7:c.2077G>C MANE Select	NP_037514.2:p.Ala693Pro