Canonical Allele Identifier: CA390514262

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77745207A>G (hg19) ; chr14:g.77278864A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278864A>G , CM000676.2:g.77278864A>G	GRCh38
NC_000014.8:g.77745207A>G , CM000676.1:g.77745207A>G	GRCh37
NC_000014.7:g.76814960A>G	NCBI36
NG_008897.1:g.47019T>C , LRG_844:g.47019T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.822T>C
ENST00000556394.2:c.1438T>C	ENSP00000451967.2:p.Ser480Pro
ENST00000682128.1:c.198T>C	ENSP00000506976.1:n.198T>C
ENST00000682247.1:c.1892-6T>C	ENSP00000507213.1:n.1892-6T>C
ENST00000682395.1:n.2361T>C
ENST00000682459.1:n.1600T>C
ENST00000682467.1:c.1892-356T>C	ENSP00000508062.1:n.1892-356T>C
ENST00000682615.1:n.251T>C
ENST00000682795.1:c.2044T>C	ENSP00000507574.1:p.Ser682Pro
ENST00000682895.1:n.1613T>C
ENST00000682955.1:n.1471T>C
ENST00000683095.1:c.303T>C	ENSP00000508040.1:n.303T>C
ENST00000683188.1:c.2158T>C
ENST00000683380.1:n.1561T>C
ENST00000683828.1:c.1606T>C
ENST00000683907.1:c.162T>C	ENSP00000507754.1:p.Cys54=
ENST00000684172.1:c.273T>C	ENSP00000508391.1:n.273T>C
ENST00000684259.1:n.3664T>C
ENST00000684538.1:n.1276T>C
ENST00000684549.1:n.1448T>C
ENST00000261534.9:c.1897T>C MANE Select	ENSP00000261534.4:p.Ser633Pro
ENST00000261534.8:c.1897T>C	ENSP00000261534.4:p.Ser633Pro
ENST00000452340.7:n.2873T>C
ENST00000554767.5:n.2683T>C
ENST00000555134.1:n.822T>C
ENST00000555710.1:c.258T>C	ENSP00000451730.1:n.258T>C
ENST00000556171.1:c.489T>C
ENST00000556394.1:c.88-356T>C
ENST00000556446.1:n.198T>C
ENST00000602717.5:c.112T>C	ENSP00000487704.1:p.Ser38Pro
NM_013382.5:c.1897T>C , LRG_844t1:c.1897T>C	NP_037514.2:p.Ser633Pro
XM_011536675.1:c.2086T>C	XP_011534977.1:p.Ser696Pro
XM_011536676.1:c.1753T>C	XP_011534978.1:p.Ser585Pro
XM_011536677.1:c.1627T>C	XP_011534979.1:p.Ser543Pro
XM_011536679.1:c.1180T>C	XP_011534981.1:p.Ser394Pro
XR_943416.1:n.2150T>C
XM_011536675.2:c.2086T>C	XP_011534977.1:p.Ser696Pro
XM_011536676.2:c.1753T>C	XP_011534978.1:p.Ser585Pro
XM_011536677.3:c.1627T>C	XP_011534979.1:p.Ser543Pro
XR_001750279.1:n.2183T>C
XR_001750282.1:n.2836T>C
XR_943416.3:n.2148T>C
NM_013382.6:c.1897T>C	NP_037514.2:p.Ser633Pro
NM_013382.7:c.1897T>C MANE Select	NP_037514.2:p.Ser633Pro