Canonical Allele Identifier: CA390513982

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77745141A>G (hg19) ; chr14:g.77278798A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278798A>G , CM000676.2:g.77278798A>G	GRCh38
NC_000014.8:g.77745141A>G , CM000676.1:g.77745141A>G	GRCh37
NC_000014.7:g.76814894A>G	NCBI36
NG_008897.1:g.47085T>C , LRG_844:g.47085T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.888T>C
ENST00000556394.2:c.1504T>C	ENSP00000451967.2:p.Phe502Leu
ENST00000682128.1:c.264T>C	ENSP00000506976.1:n.264T>C
ENST00000682247.1:c.1952T>C	ENSP00000507213.1:p.Phe651Ser
ENST00000682395.1:n.2427T>C
ENST00000682459.1:n.1666T>C
ENST00000682467.1:c.1892-290T>C	ENSP00000508062.1:n.1892-290T>C
ENST00000682615.1:n.317T>C
ENST00000682795.1:c.2110T>C	ENSP00000507574.1:p.Phe704Leu
ENST00000682895.1:n.1679T>C
ENST00000682955.1:n.1537T>C
ENST00000683095.1:c.369T>C	ENSP00000508040.1:n.369T>C
ENST00000683188.1:c.2224T>C
ENST00000683380.1:n.1627T>C
ENST00000683828.1:c.1672T>C
ENST00000683907.1:c.228T>C	ENSP00000507754.1:p.Phe76=
ENST00000684172.1:c.339T>C	ENSP00000508391.1:n.339T>C
ENST00000684259.1:n.3730T>C
ENST00000684538.1:n.1342T>C
ENST00000684549.1:n.1514T>C
ENST00000261534.9:c.1963T>C MANE Select	ENSP00000261534.4:p.Phe655Leu
ENST00000261534.8:c.1963T>C	ENSP00000261534.4:p.Phe655Leu
ENST00000452340.7:n.2939T>C
ENST00000554767.5:n.2749T>C
ENST00000555710.1:c.324T>C	ENSP00000451730.1:n.324T>C
ENST00000556171.1:c.555T>C
ENST00000556394.1:c.88-290T>C
ENST00000556446.1:n.264T>C
ENST00000602717.5:c.178T>C	ENSP00000487704.1:p.Phe60Leu
NM_013382.5:c.1963T>C , LRG_844t1:c.1963T>C	NP_037514.2:p.Phe655Leu
XM_011536675.1:c.2152T>C	XP_011534977.1:p.Phe718Leu
XM_011536676.1:c.1819T>C	XP_011534978.1:p.Phe607Leu
XM_011536677.1:c.1693T>C	XP_011534979.1:p.Phe565Leu
XM_011536679.1:c.1246T>C	XP_011534981.1:p.Phe416Leu
XR_943416.1:n.2216T>C
XM_011536675.2:c.2152T>C	XP_011534977.1:p.Phe718Leu
XM_011536676.2:c.1819T>C	XP_011534978.1:p.Phe607Leu
XM_011536677.3:c.1693T>C	XP_011534979.1:p.Phe565Leu
XR_001750279.1:n.2249T>C
XR_001750282.1:n.2902T>C
XR_943416.3:n.2214T>C
NM_013382.6:c.1963T>C	NP_037514.2:p.Phe655Leu
NM_013382.7:c.1963T>C MANE Select	NP_037514.2:p.Phe655Leu