Canonical Allele Identifier: CA390513997

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77745144A>G (hg19) ; chr14:g.77278801A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278801A>G , CM000676.2:g.77278801A>G	GRCh38
NC_000014.8:g.77745144A>G , CM000676.1:g.77745144A>G	GRCh37
NC_000014.7:g.76814897A>G	NCBI36
NG_008897.1:g.47082T>C , LRG_844:g.47082T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.885T>C
ENST00000556394.2:c.1501T>C	ENSP00000451967.2:p.Phe501Leu
ENST00000682128.1:c.261T>C	ENSP00000506976.1:n.261T>C
ENST00000682247.1:c.1949T>C	ENSP00000507213.1:p.Val650Ala
ENST00000682395.1:n.2424T>C
ENST00000682459.1:n.1663T>C
ENST00000682467.1:c.1892-293T>C	ENSP00000508062.1:n.1892-293T>C
ENST00000682615.1:n.314T>C
ENST00000682795.1:c.2107T>C	ENSP00000507574.1:p.Phe703Leu
ENST00000682895.1:n.1676T>C
ENST00000682955.1:n.1534T>C
ENST00000683095.1:c.366T>C	ENSP00000508040.1:n.366T>C
ENST00000683188.1:c.2221T>C
ENST00000683380.1:n.1624T>C
ENST00000683828.1:c.1669T>C
ENST00000683907.1:c.225T>C	ENSP00000507754.1:p.Arg75=
ENST00000684172.1:c.336T>C	ENSP00000508391.1:n.336T>C
ENST00000684259.1:n.3727T>C
ENST00000684538.1:n.1339T>C
ENST00000684549.1:n.1511T>C
ENST00000261534.9:c.1960T>C MANE Select	ENSP00000261534.4:p.Phe654Leu
ENST00000261534.8:c.1960T>C	ENSP00000261534.4:p.Phe654Leu
ENST00000452340.7:n.2936T>C
ENST00000554767.5:n.2746T>C
ENST00000555710.1:c.321T>C	ENSP00000451730.1:n.321T>C
ENST00000556171.1:c.552T>C
ENST00000556394.1:c.88-293T>C
ENST00000556446.1:n.261T>C
ENST00000602717.5:c.175T>C	ENSP00000487704.1:p.Phe59Leu
NM_013382.5:c.1960T>C , LRG_844t1:c.1960T>C	NP_037514.2:p.Phe654Leu
XM_011536675.1:c.2149T>C	XP_011534977.1:p.Phe717Leu
XM_011536676.1:c.1816T>C	XP_011534978.1:p.Phe606Leu
XM_011536677.1:c.1690T>C	XP_011534979.1:p.Phe564Leu
XM_011536679.1:c.1243T>C	XP_011534981.1:p.Phe415Leu
XR_943416.1:n.2213T>C
XM_011536675.2:c.2149T>C	XP_011534977.1:p.Phe717Leu
XM_011536676.2:c.1816T>C	XP_011534978.1:p.Phe606Leu
XM_011536677.3:c.1690T>C	XP_011534979.1:p.Phe564Leu
XR_001750279.1:n.2246T>C
XR_001750282.1:n.2899T>C
XR_943416.3:n.2211T>C
NM_013382.6:c.1960T>C	NP_037514.2:p.Phe654Leu
NM_013382.7:c.1960T>C MANE Select	NP_037514.2:p.Phe654Leu