Canonical Allele Identifier: CA400601782

Gene: SMARCD2

Linked Data

• MyVariant Identifiers: chr17:g.61914970G>A (hg19) ; chr17:g.63837610G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63837610G>A , CM000679.2:g.63837610G>A	GRCh38
NC_000017.10:g.61914970G>A , CM000679.1:g.61914970G>A	GRCh37
NC_000017.9:g.59268702G>A	NCBI36
NG_053004.1:g.10382C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697953.1:n.120C>T
ENST00000698016.1:c.91C>T	ENSP00000513502.1:p.Pro31Ser
ENST00000698022.1:c.49C>T	ENSP00000513504.1:p.Pro17Ser
ENST00000698027.1:c.91C>T	ENSP00000513505.1:p.Pro31Ser
ENST00000448276.7:c.232C>T MANE Select	ENSP00000392617.2:p.Pro78Ser
ENST00000225742.13:c.7C>T	ENSP00000225742.9:p.Pro3Ser
ENST00000323347.14:c.88C>T	ENSP00000318451.10:p.Pro30Ser
ENST00000448276.6:c.232C>T	ENSP00000392617.2:p.Pro78Ser
ENST00000577686.1:n.53-373C>T
ENST00000580054.1:c.16C>T	ENSP00000463793.1:p.Pro6Ser
ENST00000584400.5:c.217-373C>T	ENSP00000464503.1:n.217-373C>T
ENST00000613943.4:c.121C>T	ENSP00000483605.1:p.Pro41Ser
NM_001098426.1:c.232C>T	NP_001091896.1:p.Pro78Ser
XM_005257604.2:c.7C>T	XP_005257661.2:p.Pro3Ser
NM_001330439.1:c.7C>T	NP_001317368.1:p.Pro3Ser
NM_001330440.1:c.88C>T	NP_001317369.1:p.Pro30Ser
NM_001098426.2:c.232C>T MANE Select	NP_001091896.1:p.Pro78Ser
NM_001330440.2:c.88C>T	NP_001317369.1:p.Pro30Ser