Canonical Allele Identifier: CA1160253

Gene: MEF2D

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156476450C>A , CM000663.2:g.156476450C>A	GRCh38
NC_000001.10:g.156446242C>A , CM000663.1:g.156446242C>A	GRCh37
NC_000001.9:g.154712866C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000348159.9:c.876+44G>T MANE Select	ENSP00000271555.5:n.876+44G>T
ENST00000348159.8:c.876+44G>T	ENSP00000271555.5:n.876+44G>T
ENST00000360595.7:c.855+562G>T	ENSP00000353803.3:n.855+562G>T
ENST00000368240.6:c.*224+562G>T	ENSP00000357223.3:n.*224+562G>T
ENST00000464356.6:c.852+562G>T	ENSP00000476788.1:n.852+562G>T
ENST00000475587.2:c.*224+562G>T	ENSP00000477413.1:n.*224+562G>T
NM_001271629.1:c.855+562G>T	NP_001258558.1:n.855+562G>T
NM_005920.3:c.876+44G>T	NP_005911.1:n.876+44G>T
XM_005245169.3:c.876+44G>T	XP_005245226.1:n.876+44G>T
XM_005245170.2:c.876+44G>T	XP_005245227.1:n.876+44G>T
XM_006711330.2:c.876+44G>T	XP_006711393.1:n.876+44G>T
XM_006711332.2:c.873+44G>T	XP_006711395.1:n.873+44G>T
XM_006711333.2:c.855+562G>T	XP_006711396.1:n.855+562G>T
XM_006711334.2:c.852+562G>T	XP_006711397.1:n.852+562G>T
XM_011509569.1:c.876+44G>T	XP_011507871.1:n.876+44G>T
XM_011509570.1:c.855+562G>T	XP_011507872.1:n.855+562G>T
XM_005245169.4:c.876+44G>T	XP_005245226.1:n.876+44G>T
XM_005245170.3:c.876+44G>T	XP_005245227.1:n.876+44G>T
XM_006711330.3:c.876+44G>T	XP_006711393.1:n.876+44G>T
XM_006711332.3:c.873+44G>T	XP_006711395.1:n.873+44G>T
XM_006711334.3:c.852+562G>T	XP_006711397.1:n.852+562G>T
XM_011509569.3:c.876+44G>T	XP_011507871.1:n.876+44G>T
XM_017001314.1:c.855+562G>T	XP_016856803.1:n.855+562G>T
XM_017001315.1:c.855+562G>T	XP_016856804.1:n.855+562G>T
XR_001737184.1:n.1345+562G>T
NM_005920.4:c.876+44G>T MANE Select	NP_005911.1:n.876+44G>T
NM_001271629.2:c.855+562G>T	NP_001258558.1:n.855+562G>T