Canonical Allele Identifier: CA783385235

Gene: MAN2B1

Linked Data

• dbSNP Id: rs1367113898
• gnomAD v3: 19-12648989-C-CTCAAAGAGAGTTTTCTT
• gnomAD v4: 19-12648989-C-CTCAAAGAGAGTTTTCTT
• MyVariant Identifiers: chr19:g.12759803_12759804insTCAAAGAGAGTTTTCTT (hg19) ; chr19:g.12648989_12648990insTCAAAGAGAGTTTTCTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12648989_12648990insTCAAAGAGAGTTTTCTT , CM000681.2:g.12648989_12648990insTCAAAGAGAGTTTTCTT	GRCh38
NC_000019.9:g.12759803_12759804insTCAAAGAGAGTTTTCTT , CM000681.1:g.12759803_12759804insTCAAAGAGAGTTTTCTT	GRCh37
NC_000019.8:g.12620803_12620804insTCAAAGAGAGTTTTCTT	NCBI36
NG_008318.1:g.22788_22789insAAGAAAACTCTCTTTGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.2436+146_2436+147insAAGAAAACTCTCTTTGA MANE Select	ENSP00000395473.2:n.2436+146_2436+147insAAGAAAACTCTCTTTGA
ENST00000221363.8:c.2433+146_2433+147insAAGAAAACTCTCTTTGA	ENSP00000221363.4:n.2433+146_2433+147insAAGAAAACTCTCTTTGA
ENST00000456935.6:c.2436+146_2436+147insAAGAAAACTCTCTTTGA	ENSP00000395473.2:n.2436+146_2436+147insAAGAAAACTCTCTTTGA
ENST00000466794.5:n.3026+146_3026+147insAAGAAAACTCTCTTTGA
NM_000528.3:c.2436+146_2436+147insAAGAAAACTCTCTTTGA	NP_000519.2:n.2436+146_2436+147insAAGAAAACTCTCTTTGA
NM_001173498.1:c.2433+146_2433+147insAAGAAAACTCTCTTTGA	NP_001166969.1:n.2433+146_2433+147insAAGAAAACTCTCTTTGA
XM_005259913.1:c.2439+146_2439+147insAAGAAAACTCTCTTTGA	XP_005259970.1:n.2439+146_2439+147insAAGAAAACTCTCTTTGA
XM_011528017.1:c.1335+146_1335+147insAAGAAAACTCTCTTTGA	XP_011526319.1:n.1335+146_1335+147insAAGAAAACTCTCTTTGA
XM_005259913.2:c.2439+146_2439+147insAAGAAAACTCTCTTTGA	XP_005259970.1:n.2439+146_2439+147insAAGAAAACTCTCTTTGA
XM_024451518.1:c.1335+146_1335+147insAAGAAAACTCTCTTTGA	XP_024307286.1:n.1335+146_1335+147insAAGAAAACTCTCTTTGA
NM_000528.4:c.2436+146_2436+147insAAGAAAACTCTCTTTGA MANE Select	NP_000519.2:n.2436+146_2436+147insAAGAAAACTCTCTTTGA
NM_001173498.2:c.2433+146_2433+147insAAGAAAACTCTCTTTGA	NP_001166969.1:n.2433+146_2433+147insAAGAAAACTCTCTTTGA