Canonical Allele Identifier: CA390513828

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77745104A>G (hg19) ; chr14:g.77278761A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278761A>G , CM000676.2:g.77278761A>G	GRCh38
NC_000014.8:g.77745104A>G , CM000676.1:g.77745104A>G	GRCh37
NC_000014.7:g.76814857A>G	NCBI36
NG_008897.1:g.47122T>C , LRG_844:g.47122T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.925T>C
ENST00000556394.2:c.1541T>C	ENSP00000451967.2:p.Phe514Ser
ENST00000682128.1:c.301T>C	ENSP00000506976.1:n.301T>C
ENST00000682247.1:c.1989T>C	ENSP00000507213.1:p.Leu663=
ENST00000682395.1:n.2464T>C
ENST00000682459.1:n.1703T>C
ENST00000682467.1:c.1892-253T>C	ENSP00000508062.1:n.1892-253T>C
ENST00000682615.1:n.354T>C
ENST00000682795.1:c.2147T>C	ENSP00000507574.1:p.Phe716Ser
ENST00000682895.1:n.1716T>C
ENST00000682955.1:n.1574T>C
ENST00000683095.1:c.406T>C	ENSP00000508040.1:n.406T>C
ENST00000683188.1:c.2261T>C
ENST00000683380.1:n.1664T>C
ENST00000683907.1:c.265T>C	ENSP00000507754.1:n.265T>C
ENST00000684172.1:c.376T>C	ENSP00000508391.1:n.376T>C
ENST00000684259.1:n.3767T>C
ENST00000684538.1:n.1379T>C
ENST00000684549.1:n.1551T>C
ENST00000261534.9:c.2000T>C MANE Select	ENSP00000261534.4:p.Phe667Ser
ENST00000261534.8:c.2000T>C	ENSP00000261534.4:p.Phe667Ser
ENST00000452340.7:n.2976T>C
ENST00000554767.5:n.2786T>C
ENST00000555710.1:c.361T>C	ENSP00000451730.1:n.361T>C
ENST00000556394.1:c.88-253T>C
ENST00000556446.1:n.301T>C
ENST00000602717.5:c.215T>C	ENSP00000487704.1:p.Phe72Ser
NM_013382.5:c.2000T>C , LRG_844t1:c.2000T>C	NP_037514.2:p.Phe667Ser
XM_011536675.1:c.2189T>C	XP_011534977.1:p.Phe730Ser
XM_011536676.1:c.1856T>C	XP_011534978.1:p.Phe619Ser
XM_011536677.1:c.1730T>C	XP_011534979.1:p.Phe577Ser
XM_011536679.1:c.1283T>C	XP_011534981.1:p.Phe428Ser
XR_943416.1:n.2253T>C
XM_011536675.2:c.2189T>C	XP_011534977.1:p.Phe730Ser
XM_011536676.2:c.1856T>C	XP_011534978.1:p.Phe619Ser
XM_011536677.3:c.1730T>C	XP_011534979.1:p.Phe577Ser
XR_001750279.1:n.2286T>C
XR_001750282.1:n.2939T>C
XR_943416.3:n.2251T>C
NM_013382.6:c.2000T>C	NP_037514.2:p.Phe667Ser
NM_013382.7:c.2000T>C MANE Select	NP_037514.2:p.Phe667Ser