Canonical Allele Identifier: CA2636107898

Gene: MYH2 MYHAS

Linked Data

• gnomAD v4: 17-10533218-CTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.10533219_10533220del , CM000679.2:g.10533219_10533220del	GRCh38
NC_000017.10:g.10436536_10436537del , CM000679.1:g.10436536_10436537del	GRCh37
NC_000017.9:g.10377261_10377262del	NCBI36
NG_013014.1:g.21481_21482del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000245503.10:c.2441+65_2441+66del (MYH2) MANE Select	ENSP00000245503.5:n.2441+65_2441+66del
ENST00000245503.9:c.2441+65_2441+66del (MYH2)	ENSP00000245503.5:n.2441+65_2441+66del
ENST00000397183.6:c.2441+65_2441+66del (MYH2)	ENSP00000380367.2:n.2441+65_2441+66del
ENST00000532183.6:c.1974+3310_1974+3311del (MYH2)	ENSP00000433944.1:n.1974+3310_1974+3311del
ENST00000622564.4:c.1974+3310_1974+3311del (MYH2)	ENSP00000482463.1:n.1974+3310_1974+3311del
NM_001100112.1:c.2441+65_2441+66del (MYH2)	NP_001093582.1:n.2441+65_2441+66del
NM_017534.5:c.2441+65_2441+66del (MYH2)	NP_060004.3:n.2441+65_2441+66del
NR_125367.1:n.168-34318_168-34317del (MYHAS)
NM_017534.6:c.2441+65_2441+66del (MYH2) MANE Select	NP_060004.3:n.2441+65_2441+66del
NM_001100112.2:c.2441+65_2441+66del (MYH2)	NP_001093582.1:n.2441+65_2441+66del