Canonical Allele Identifier: CA390513767

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77745090A>G (hg19) ; chr14:g.77278747A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278747A>G , CM000676.2:g.77278747A>G	GRCh38
NC_000014.8:g.77745090A>G , CM000676.1:g.77745090A>G	GRCh37
NC_000014.7:g.76814843A>G	NCBI36
NG_008897.1:g.47136T>C , LRG_844:g.47136T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.939T>C
ENST00000556394.2:c.1555T>C	ENSP00000451967.2:p.Phe519Leu
ENST00000682128.1:c.315T>C	ENSP00000506976.1:n.315T>C
ENST00000682247.1:c.2003T>C	ENSP00000507213.1:p.Leu668Pro
ENST00000682395.1:n.2478T>C
ENST00000682459.1:n.1717T>C
ENST00000682467.1:c.1892-239T>C	ENSP00000508062.1:n.1892-239T>C
ENST00000682615.1:n.368T>C
ENST00000682795.1:c.2161T>C	ENSP00000507574.1:p.Phe721Leu
ENST00000682895.1:n.1730T>C
ENST00000682955.1:n.1588T>C
ENST00000683095.1:c.420T>C	ENSP00000508040.1:n.420T>C
ENST00000683188.1:c.2275T>C
ENST00000683380.1:n.1678T>C
ENST00000683907.1:c.279T>C	ENSP00000507754.1:n.279T>C
ENST00000684172.1:c.390T>C	ENSP00000508391.1:n.390T>C
ENST00000684259.1:n.3781T>C
ENST00000684538.1:n.1393T>C
ENST00000684549.1:n.1565T>C
ENST00000261534.9:c.2014T>C MANE Select	ENSP00000261534.4:p.Phe672Leu
ENST00000261534.8:c.2014T>C	ENSP00000261534.4:p.Phe672Leu
ENST00000452340.7:n.2990T>C
ENST00000554767.5:n.2800T>C
ENST00000555710.1:c.375T>C	ENSP00000451730.1:n.375T>C
ENST00000556394.1:c.88-239T>C
ENST00000556446.1:n.315T>C
ENST00000602717.5:c.229T>C	ENSP00000487704.1:p.Phe77Leu
NM_013382.5:c.2014T>C , LRG_844t1:c.2014T>C	NP_037514.2:p.Phe672Leu
XM_011536675.1:c.2203T>C	XP_011534977.1:p.Phe735Leu
XM_011536676.1:c.1870T>C	XP_011534978.1:p.Phe624Leu
XM_011536677.1:c.1744T>C	XP_011534979.1:p.Phe582Leu
XM_011536679.1:c.1297T>C	XP_011534981.1:p.Phe433Leu
XR_943416.1:n.2267T>C
XM_011536675.2:c.2203T>C	XP_011534977.1:p.Phe735Leu
XM_011536676.2:c.1870T>C	XP_011534978.1:p.Phe624Leu
XM_011536677.3:c.1744T>C	XP_011534979.1:p.Phe582Leu
XR_001750279.1:n.2300T>C
XR_001750282.1:n.2953T>C
XR_943416.3:n.2265T>C
NM_013382.6:c.2014T>C	NP_037514.2:p.Phe672Leu
NM_013382.7:c.2014T>C MANE Select	NP_037514.2:p.Phe672Leu